Raras
Buscar doenças, sintomas, genes...
Síndrome de fenda palatina-baixa estatura-anomalias vertebrais
ORPHA:2015CID-10 · Q87.0DOENÇA RARA

Fenda palatina – baixa estatura – anomalias vertebrais é uma síndrome de anomalias congênitas múltiplas descrita em pai e filho, caracterizada pela associação de fenda palatina, fácies peculiar (aparência assimétrica, pregas epicânticas internas, nariz curto, narinas antevertidas, orelhas baixas e voltadas para trás, lábio superior fino e micrognatismo), baixa estatura, pescoço curto, anomalias vertebrais e deficiência intelectual. Presume-se que a transmissão seja autossômica dominante. Não houve mais descrições na literatura desde 1993.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Fenda palatina – baixa estatura – anomalias vertebrais é uma síndrome de anomalias congênitas múltiplas descrita em pai e filho, caracterizada pela associação de fenda palatina, fácies peculiar (aparência assimétrica, pregas epicânticas internas, nariz curto, narinas antevertidas, orelhas baixas e voltadas para trás, lábio superior fino e micrognatismo), baixa estatura, pescoço curto, anomalias vertebrais e deficiência intelectual. Presume-se que a transmissão seja autossômica dominante. Não houve mais descrições na literatura desde 1993.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
4 sintomas
🦴
Ossos e articulações
2 sintomas
👂
Ouvidos
1 sintomas
📏
Crescimento
1 sintomas
🧠
Neurológico
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

55%prev.
Morfologia vertebral anormal
Frequente (79-30%)
55%prev.
Micrognatia
Frequente (79-30%)
55%prev.
Orelhas com rotação posterior
Frequente (79-30%)
55%prev.
Pescoço curto
Frequente (79-30%)
55%prev.
Narinas antevertidas
Frequente (79-30%)
55%prev.
Baixa estatura
Frequente (79-30%)
11sintomas
Frequente (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Morfologia vertebral anormalAbnormal vertebral morphology
Frequente (79-30%)55%
MicrognatiaMicrognathia
Frequente (79-30%)55%
Orelhas com rotação posteriorPosteriorly rotated ears
Frequente (79-30%)55%
Pescoço curtoShort neck
Frequente (79-30%)55%
Narinas antevertidasAnteverted nares
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025140 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de fenda palatina-baixa estatura-anomalias vertebrais

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de fenda palatina-baixa estatura-anomalias vertebrais

Centros para Síndrome de fenda palatina-baixa estatura-anomalias vertebrais

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

BMJ case reports2026 Mar 23

Goldenhar syndrome is a rare congenital condition characterised by craniofacial deformities and vertebral anomalies, which pose significant challenges for anaesthesiologists in airway management and ventilatory support. In this case report, we present a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty, highlighting the importance of a thorough preoperative evaluation, airway planning and the application of lung protective ventilation strategies. The procedure was successfully done under general anaesthesia without intraoperative or postoperative complications. This case report emphasises the importance of individualised anaesthetic planning in patients with craniofacial and vertebral anomalies. The perioperative risks were significantly reduced by anticipating a potential difficult airway and tailoring ventilatory management.

#2

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

BMJ case reports2026 Feb 25

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene. Core features include developmental delay, intellectual disability, dysmorphic craniofacial characteristics, obesity, hypogonadism and digital anomalies. Orofacial clefting has not been recognised as part of the canonical phenotype and is rarely reported in association with BFLS. One cohort study listed cleft lip and/or palate as an uncommon feature without individual case details, and a separate report described a female with a nonsense PHF6 variant and clefting of the hard and soft palate. Here, we describe a BFLS female with a de novo missense PHF6 variant who presented with cleft palate. This case adds to the emerging evidence that clefting, though uncommon, may be a recurrent manifestation. It supports the inclusion of PHF6 in the genetic testing of patients presenting with syndromic orofacial clefting when accompanied by neurodevelopmental delay or dysmorphism.

#3

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

BMC pediatrics2026 Feb 09

DiGeorge syndrome (DGS; OMIM #188400), also known as 22q11.2 deletion syndrome, is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. The syndrome is ranked as the second most common chromosomal change after Down’s syndrome, accounting for 1 in 2000 newborns. DGS syndrome is typically diagnosed through CGH and/or FISH analysis in developed countries. However, in low-resource healthcare settings, diagnosis often relies primarily on clinical manifestations due to limited access to genetic testing. The present study, the first of its kind, seeks to deepen the understanding of both the clinical and genetic aspects of DGS among Sudanese patients by employing FISH analysis as a confirmatory test. Between 2020 and 2023, 19 patients with DGS as a provisional diagnosis were referred to the Elite Center for Genetic Services for genetic testing and counseling. Cytogenetics and chromosomal analysis were performed following standard protocols, complemented by chromosomal FISH analysis using locus-specific TUPLE1 and α-satellite DNA probes. Of the 19 patients, 9 (47.4%) were male, and 10 (52.6%) were female, with ages ranging from 2 months to 3 years, and a mean of 11 ± 8.6 months. The most common presentations were CHD in 13 (68.4%), dysmorphic features in 12 (63.2%), and recurrent respiratory tract infections in 9 (47.4%). The least common presenting complaint was intellectual disability in only 2 (10.5%) patients. The echocardiogram revealed isolated heart defects in 9 (47.4%) patients, and only 4 (21.1%) had combined cardiac anomalies. Laboratory tests showed hypocalcemia in all four neonatal patients (21.1%) with a previous history of neonatal convulsions. Conventional cytogenetic analyses were suggestive but non-conclusive {46,XY,?del(22) and 46,XX,?del(22)} for DGS. The complementary FISH analysis confirmed the diagnosis by detecting the microdeletion in the DGCR of chromosome 22. Our study highlights the late presentation of DGS for genetic diagnoses. This may be due to limited access to genetic testing, late referrals from treating physicians, or the high cost of the tests. A key area for future research is the environmental factors, such as skin bleaching, that may contribute to DGS in Sudan and other African populations.

#4

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics2026 Apr

Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.

#5

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics2026 Mar

Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.

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Quality of life in patients with craniofacial anomalies: personal experience and review of literature.

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Clinical and genetic basis of congenital gonadotropin deficiency.

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Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

BMJ case reports
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Silent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.

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Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

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Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
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Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental Disorders.

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A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

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Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

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A Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.

Children (Basel, Switzerland)
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Otopalatodigital Syndrome Type 2: A Case Report.

Neonatal network : NN
2026

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

BMJ case reports
2026

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Stereophotogrammetry as a Precise and Accurate Method for Facial Analysis in Patients With Cleft Lip and Palate Undergoing Orthognathic Surgery.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2026

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Prenatal diagnosis
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Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

American journal of medical genetics. Part A
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The Role of Selenium During Gestation in the Development of Fetal Congenital Anomalies: A Systematic Review.

Nutrients
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Complete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.

Annals of medicine and surgery (2012)
2026

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

BMC pediatrics
2026

Notch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.

bioRxiv : the preprint server for biology
2026

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.

Frontiers in physiology
2026

Trends in non-syndromic cleft lip and palate research: A bibliometric analysis.

Journal of stomatology, oral and maxillofacial surgery
2026

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

AJNR. American journal of neuroradiology
2025

[Genetic analysis of a fetus with 12q14 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Incidence of Ocular Abnormalities in Metopic Craniosynostosis: Cranial Vault Reconstruction Versus Endoscopic Suturectomy.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
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Demography and Surgical Interventions of Submucous Cleft Palate: A Single-center Retrospective Case Series.

Journal of plastic and reconstructive surgery
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Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

Journal of human genetics
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[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Population developmental hazard of over-the-counter NSAIDs.

Folia medica Cracoviensia
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Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Children (Basel, Switzerland)
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Genetic Associations with Non-Syndromic Cleft Lip/Palate and Dental Caries in Kuwaiti Patients: A Case-Control Study.

Dentistry journal
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Parental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.

Frontiers in public health
2026

Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.

Plastic and reconstructive surgery. Global open
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Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.

Archives of gynecology and obstetrics
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Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Medical sciences (Basel, Switzerland)
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Posterior Cranial Decompression in ERF-Mutated Multisuture Craniosynostosis.

The Journal of craniofacial surgery
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Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Experimental and therapeutic medicine
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Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
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Parental knowledge and access barriers in the management of cleft lip and/or palate: A cross-sectional study from Saudi Arabia.

Medicine
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Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.

BMC oral health
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Current Approaches and Therapeutic Strategies for Hypothalamic Syndrome in Patients with Childhood-onset Craniopharyngioma.

Journal of clinical research in pediatric endocrinology
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The role of Rho GTPases in facial morphogenesis.

Developmental dynamics : an official publication of the American Association of Anatomists
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Descriptive Exploration of Features Among Infants With Prenatal Fentanyl Exposure in a Multisite Cohort of Maternal-Infant Dyads Affected by Opioid Use Disorder.

Journal of addiction medicine
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Craniofacial features associated with Hutchinson - Gilford progeria syndrome - A case report.

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Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Research square
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The Suggestive Association Between the NOG rs227731 Polymorphism and Non-Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort.

Congenital anomalies
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Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.

Molecular genetics &amp; genomic medicine
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Associated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand.

Frontiers in oral health
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Risk factors associated with hearing loss in neonates: A retrospective cross-sectional study from Qatar.

Qatar medical journal
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Dental anomalies in subjects with non-syndromic cleft lip and palate.

Stomatologija
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Evaluation of mandibular morphology in untreated growing patients with hemifacial Microsomia: a 3D computed tomography study.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
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Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.

International journal of molecular sciences
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Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.

The Medical journal of Malaysia
2025

Neuroendocrine Axis Investigation in Patients with Arhinia, Hemiarhinia and Associated Malformations.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Cureus
2025

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Clinical epigenetics
2025

Morphometric Evaluation of the Pterygomaxillary Suture in Patients with Unilateral and Bilateral Cleft Lip and Palate Using Cone-Beam Computed Tomography.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Cleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral Center.

Acta medica portuguesa
2026

Surgeon Perspectives on Cleft Lip and Palate Repair in Patients With Life-Limiting and Terminal Illnesses: An ACPA Member Survey.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28.

Molecular syndromology
2025

Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.

Einstein (Sao Paulo, Brazil)
2025

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Case reports in dentistry
2025

Prevalence of Dental Anomalies in Primary vs. Permanent Dentition in Individuals with Non-Syndromic Cleft Lip and Palate: A Systematic Review and Meta-Analysis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Oral health-related quality of life and dental occlusion before and after alveolar and hard palate reconstruction at the time of mixed dentition.

Frontiers in oral health
2026

Smartphone and AI Workflow for 3D Printed Plate for Presurgical Therapy in Cleft Lip and Palate: Retrospective Evaluation of Outcomes.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Palatal subunits analysis in unilateral cleft lip and palate compared to controls: A comparative cohort study.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.

Journal of visualized experiments : JoVE
2025

Diving Into the Rarity: A Case Report of Nonsyndromic Bilateral Branchial Cleft Fistula.

Clinical case reports
2025

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network.

Paediatric and perinatal epidemiology
2026

Craniofacial surgery needs in the Moebius syndrome population.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Bilateral Palatal Synechiae With Cleft Palate: A Rare Entity.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics.

International dental journal
2025

Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.

Computational and structural biotechnology journal
2025

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Matrix biology : journal of the International Society for Matrix Biology
2025

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

Molecular biology reports
2025

Two Cases of Singular Sacral S1 Butterfly Vertebra.

Diagnostics (Basel, Switzerland)
2026

Caregiver-Reported Barriers and Predictors of Appointment Attendance in Pediatric Craniofacial Team Care.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Prerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Mandibular Symphysis Bone for Alveolar Grafting: 3D Outcomes and Donor Site Regeneration in Patients With Unilateral Cleft Lip and Alveolus.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Syndactylisation with internal bracing using a suture-button construct for severe cleft foot (Ectrodactyly): A 3-year follow-up case report.

Journal of clinical orthopaedics and trauma
2025

Prevalence of Congenital Anomalies and Its Associated Factors Among Newborns in Central Ethiopia Region Public Hospitals, Ethiopia: A Retrospective Cross-Sectional Study, 2023.

Public health challenges
2025

Multidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2026

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

American journal of medical genetics. Part A
2025

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Human molecular genetics
2025

Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.

Frontiers in pediatrics
2025

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

Cureus
2025

Dual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae.

Interdisciplinary cardiovascular and thoracic surgery
2026

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

European journal of radiology
2025

Prevalence of Chronic Gastrointestinal Disorders in Patients With Cleft Lip and/or Palate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Archives of gynecology and obstetrics
2025

A Rare Congenital Unilateral Solitary Lower Lip Pit without Cleft Lip and/or Palate: Case Report and Structured Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Syndromes and Genetic Basis of Clefting.

Facial plastic surgery clinics of North America
2025

Effects of Food Preferences and Supplement Intake During Pregnancy on the Cleft Lip and Palate Incidence: The Japan Environment and Children's Study.

Nutrients
2025

Natural conception complicated by spontaneous ovarian hyperstimulation syndrome in the setting of severe primary hypothyroidism: A case series.

Medicine
2025

Auditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Spinal dysraphism in newborns: Screening factors for prioritizing rapid spinal ultrasonography from a retrospective cohort study.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2025

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

American journal of human genetics
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
2025

Presurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.

International journal of clinical pediatric dentistry
2025

VACTERL Association and Unilateral Lambdoid Craniosynostosis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

A Barrier to Understanding Teratogenicity: The Critical Periods of Sensitivity for Most Structural Birth Defects Precede the Established Hemochorial Placenta.

Birth defects research
2025

Exploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.

The Medical journal of Malaysia
2025

Surgical management of ectrodactyly-associated foot deformity in a child: a case report.

Journal of medical case reports
2025

Rare features in Feingold syndrome type 1.

European journal of medical genetics
2026

Are There Morphophysiological Airway Alterations in Syndromic Craniosynostosis? A 3D Computed Tomography and CFD Analysis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Feasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.

Sleep science (Sao Paulo, Brazil)
2025

Impact of Tympanostomy Tube Placement on Hearing Outcomes in Children With Cleft Palate-Related Otitis Media: Retrospective Analysis of a Primary Single-Stage Cleft Palate Repair Cohort.

Ear, nose, &amp; throat journal
2026

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

Developmental biology
2025

Craniofacial Microsomia With Tongue Cleft: Embryological Mechanisms and Clinical Implications From Three Rare Cases.

The Journal of craniofacial surgery
2025

Causal Links Between Psychiatric Disorders, Sleep Apnea, and Oral and Maxillofacial Diseases Modules: A Mendelian Randomization Study.

The Journal of craniofacial surgery
2025

Comparative Evaluation of Z-Plasty and Linear Closure in Ankyloglossia Patients: A Randomized Study of Effects on Speech Articulation and Airway Volume.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2025

Palate-first versus lip-first surgical repair sequence in unilateral cleft lip, alveolus, and palate: A retrospective cephalometric comparison of maxillary growth at 5-year follow-up.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Trends in orofacial cleft prevalence and the effect of prenatal detection on pregnancy outcomes in Northern Netherlands.

Annals of epidemiology
2025

Nevoid Basal Cell Carcinoma Syndrome Associated With Cleft Lip and Palate: A Case Report and Literature Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Customized feeding plate for nutritional and respiratory support in an infant with Pierre Robin sequence and cleft palate complicated by severe respiratory infections: A case report.

Narra J
2026

Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.

Journal of anatomy
2025

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Journal of clinical research in pediatric endocrinology
2025

Support Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey.

Child: care, health and development
2025

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

American journal of human genetics
2025

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate.

Radiology case reports
2025

Cognitive and Behavioral Characteristics of Children with Robin Sequence Associated with Stickler Syndrome: A Case Series.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics
2025

Association of VAX1, MAFB, WNT3 with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.

Genes
2025

Gene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population.

Genes
2025

The Cumulative Burden of Comorbidities on Complications Following Mandibular Distraction Osteogenesis in Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

Single-cell transcriptomics reveal oxidative phosphorylation and oxidative stress in the superior temporal plane of non-syndromic cleft lip and palate fetuses.

Life sciences
2025

A rare case of unilateral parotid gland agenesis.

Radiology case reports
2026

Management of Middle Third Hypoplasia Using Rigid External Device: Long-Term Analysis of Results and Report of Complications.

The Journal of craniofacial surgery
2026

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

American journal of medical genetics. Part A
2025

A critical review of the prevalence of cleft lip and cleft palate in Arab countries.

Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit
2025

Emerging role of alternative splicing in oral and maxillofacial development.

Differentiation; research in biological diversity
2025

Management of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.

Cureus
2025

Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.

Orphanet journal of rare diseases
2025

New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.

Journal of medical genetics
2026

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

American journal of medical genetics. Part A
2026

MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

American journal of medical genetics. Part A
2025

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.

Human molecular genetics
2025

Multidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.

Cureus
2025

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Molecular syndromology
2025

[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.

Molecular biology reports
2025

Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report.

Frontiers in genetics
2025

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.

Biology
2025

Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Pediatrics
2025

Prenatal Phenotype in a Neonate with Prader-Willi Syndrome and Literature Review.

Diagnostics (Basel, Switzerland)
2025

Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.

The Journal of craniofacial surgery
2025

Fistulograms for the management of recurrent and atypical congenital neck anomalies.

International journal of pediatric otorhinolaryngology
2025

Perinatal Airway Risk for Individuals With Isolated Cleft Spectrum.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report.

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2025

Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study.

International journal of pediatric otorhinolaryngology
2025

Clarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.

The Journal of craniofacial surgery
2025

Special considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.

BMJ case reports
2025

Navigation-Guided Cochlear Implantation in Complex Congenital Ear Anomalies: Pierre Robin Syndrome With External Aural Atresia and Middle Ear Agenesis.

The Journal of craniofacial surgery
2025

Lower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.

International journal of pediatric otorhinolaryngology
2025

Questionnaire survey of patient families and dental school students regarding non-syndromic cleft lip and/or palate in the Federal Democratic Republic of Ethiopia.

Congenital anomalies
2025

Diagnosis of 22q11.2 Deletion Syndrome is not Independently Associated with Complications Following Speech Surgery: A National Surgical Quality Improvement Program Pediatric Study.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.

International journal of molecular sciences
2025

Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome.

European journal of human genetics : EJHG
2025

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Orphanet journal of rare diseases
2025

Role of MSX1 in the development of non-syndromic clefts in the sub-Himalayan region of India.

The British journal of oral &amp; maxillofacial surgery
2025

Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate.

Journal of human genetics
2025

Autografts, Bone Substitutes, and Combined Approaches for Secondary Alveolar Bone Grafting: A Systematic Review and Meta-Analysis.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2025

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Loxl3 Affects Palatal Shelf Elevation by Regulating Cell Proliferation and Collagen Deposition.

International journal of molecular sciences
2025

Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.

International journal of molecular sciences
2025

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Genes
2025

First-Trimester Morphological Evaluation of Fetuses and Medical Law Implications.

Diagnostics (Basel, Switzerland)
2025

Taurus Philtrum: A Newly Identified Phenomenon in Overfilled Syndrome.

Aesthetic plastic surgery
2025

Craniofacial Manifestation and Oral Health Care Needs in Pediatric Population With Fetal Alcohol Syndrome: A Systematic Review.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2025

RHOA-associated disorder can be non-mosaic.

European journal of medical genetics
2025

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

The Journal of craniofacial surgery
2025

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Case reports in perinatal medicine
2025

Prenatal diagnosis and counseling of Emanuel syndrome: Two case reports.

Taiwanese journal of obstetrics &amp; gynecology
2025

An Unprecedented Complication in Pharyngeal Flap Surgery: Cerebrospinal Fluid Leakage.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

American journal of human genetics
2025

The Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.

Journal of dental research
2025

[Advances in the study of signaling pathways in Global developmental delay /Intellectual disability combined with congenital craniofacial malformation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

A systematic review of congenital external ear anomalies and their associated factors.

Frontiers in pediatrics
2025

Streamlined Preoperative Evaluation of Velopharyngeal Dysfunction: A Single-Session Protocol for Speech MRI and Carotid MRA.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Exploring surgical outcomes in endoscopic repair of type 1 laryngeal clefts (LC-1) and deep interarytenoid notches (DIN).

American journal of otolaryngology
2025

Occurrence of Malformations of the Upper Extremity in Tibial Hemimelia: Correlation with the Jones Classification.

Indian journal of orthopaedics
2025

22q11.2 deletion syndrome in children with palatal anomaly: who and when to test?

Singapore medical journal
2025

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.

American journal of medical genetics. Part A
2025

Coronal Clival Cleft in CHARGE Syndrome: Fetal MRI Series.

AJNR. American journal of neuroradiology
2025

A Novel Advantage to Microtia Reconstruction Utilizing Ear Molding: A Case Report of Goldenhar Syndrome's Clinical Presentation and Surgical Reconstruction.

Cureus
2025

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.

Molecular neurobiology
2025

Prevalence of upper cervical vertebral anomalies in children with non-syndromic cleft lip and/or palate in comparison with children without cleft in Iranian population.

BMC oral health
2025

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.

American journal of human genetics
2025

Evaluation of Gastrointestinal Anomalies in Patients with Cleft Lip and Palate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Genome medicine
2025

Unrecognized constellation of multiple congenital anomalies in a newborn: a rare case report.

Annals of medicine and surgery (2012)
2025

Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.

Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences
2025

Microspherophakia with an atypical temporal iris coloboma in a young female.

BMJ case reports
2025

Heterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.

Neurological research and practice

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
    BMJ case reports· 2026· PMID 41871901mais citado
  2. Orofacial clefting in PHF6-related B&#xf6;rjeson-Forssman-Lehmann syndrome.
    BMJ case reports· 2026· PMID 41741118mais citado
  3. Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.
    BMC pediatrics· 2026· PMID 41664044mais citado
  4. Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
    Clinical genetics· 2026· PMID 41052910mais citado
  5. Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
    Clinical genetics· 2026· PMID 40884164mais citado
  6. Clinical characteristics, genomic profiling, treatments, and outcomes of Langerhans cell sarcoma.
    Orphanet J Rare Dis· 2026· PMID 41559709recente
  7. Methodological challenges in Dutch HTA of non-oncological orphan drugs: a retrospective analysis and price comparison using different pricing models.
    Orphanet J Rare Dis· 2026· PMID 41501932recente
  8. Personalized sirolimus regimen for vascular malformations: a retrospective analysis of VASE cohort.
    Orphanet J Rare Dis· 2025· PMID 41366677recente
  9. Determination of carriers of deafness-infertility syndrome in Peru.
    Orphanet J Rare Dis· 2025· PMID 41254778recente
  10. Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
    Orphanet J Rare Dis· 2025· PMID 41225491recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2015(Orphanet)
  2. MONDO:0016065(MONDO)
  3. GARD:1392(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785908(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de fenda palatina-baixa estatura-anomalias vertebrais
Compêndio · Raras BR

Síndrome de fenda palatina-baixa estatura-anomalias vertebrais

ORPHA:2015 · MONDO:0016065
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4304704
Wikidata
DiscussaoAtiva

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