Raras
Buscar doenças, sintomas, genes...
Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares
ORPHA:77300CID-10 · Q87.0DOENÇA RARA

A ligação entre problemas nas orelhas e lábio leporino (com ou sem fenda palatina) foi observada em dois irmãos. Um dos irmãos tinha furinhos atrás da orelha, miopia grave, nistagmo e problemas na pigmentação da retina. O segundo irmão era um feto de 23 semanas de gestação, que apresentava lábio leporino grave, fenda palatina e alterações nas orelhas externas.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A ligação entre problemas nas orelhas e lábio leporino (com ou sem fenda palatina) foi observada em dois irmãos. Um dos irmãos tinha furinhos atrás da orelha, miopia grave, nistagmo e problemas na pigmentação da retina. O segundo irmão era um feto de 23 semanas de gestação, que apresentava lábio leporino grave, fenda palatina e alterações nas orelhas externas.

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
Antenatal
+ 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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O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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
7 sintomas
👁️
Olhos
4 sintomas
🦴
Ossos e articulações
3 sintomas
🧬
Pele e cabelo
2 sintomas
🫃
Digestivo
1 sintomas
👂
Ouvidos
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Fenda incompleta do lábio superior
Muito frequente (99-80%)
90%prev.
Fenda orofacial
Muito frequente (99-80%)
55%prev.
Fissuras cutâneas periauriculares
Frequente (79-30%)
55%prev.
Hipopigmentação do fundo de olho
Frequente (79-30%)
55%prev.
Ponte nasal ampla
Frequente (79-30%)
55%prev.
Morfologia anormal do nervo óptico
Frequente (79-30%)
22sintomas
Muito frequente (2)
Frequente (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.

Fenda incompleta do lábio superiorIncomplete cleft of the upper lip
Muito frequente (99-80%)90%
Fenda orofacialOrofacial cleft
Muito frequente (99-80%)90%
Fissuras cutâneas periauricularesPeriauricular skin pits
Frequente (79-30%)55%
Hipopigmentação do fundo de olhoHypopigmentation of the fundus
Frequente (79-30%)55%
Ponte nasal amplaWide nasal bridge
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
Pico2025137 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 anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares

Centros para Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares

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

Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.

International journal of molecular sciences2026 Feb 24

Cleft palate only (CPO) is a multifactorial craniofacial malformation with significant genetic and epigenetic contributions. Among these, microRNAs (miRNAs) have emerged as key regulators of palate development, although their alterations in CPO remain incompletely characterized. In this study, we performed a comprehensive miRNA expression analysis on palatal tissues from an Italian cohort of non-syndromic CPO patients, compared with a human embryonic palatal mesenchymal (HEPM) cell line. Using the NanoString® nCounter® platform for miRNA profiling, we identified significant deregulation of several miRNAs, notably the upregulation of miR-205-5p and miR-200c-3p and the downregulation of miR-125a-5p in CPO tissues. Based on these expression changes, a functional analysis was carried out to identify potential target genes. Validation in primary cell cultures derived from patient tissues confirmed these expression patterns. Functional analyses and target predictions implicated PAX9, a key transcription factor essential for palatogenesis, as a probable target of miR-205-5p, while miR-125a-5p was associated with the regulation of PRTG and PRSS35-genes involved in neural crest cell biology and extracellular matrix remodeling, respectively. Although modulation of certain predicted targets of miR-200c-3p was observed, in vitro inhibition experiments did not show significant changes in gene expression, highlighting the complexity of miRNA regulatory networks and the need for further studies to unravel these interactions. These findings identify miRNA alterations associated with CPO tissue and fibroblasts, highlighting novel candidate pathways for further mechanistic and therapeutic investigation.

#3

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.

#4

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.

#5

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.

medRxiv : the preprint server for health sciences2026 Jan 15

Our understanding of the genetic causes of non-syndromic orofacial clefts (OFCs) is based largely upon genetic studies of common and rare nucleotide variants. Less is known about the role of copy number variations (CNVs) and the studies published to date have been limited to either small samples or targeted genomic regions. The objective of our study is to investigate the contribution of CNVs spread across the entire genome to OFC risk in a large multi-ancestry cohort. We utilized PennCNV on microarray genotyping data to detect CNVs in 10,240 participants (2,484 with clefts, 7,756 unaffected). 70,695 quality-filtered autosomal CNVs (49,660 deletions, 21,035 duplications) were used to assign normal/abnormal copy number statuses at 67,199 positions from the GRCh37 genome assembly. Genome-wide association was run between cleft status and copy number status. We observed a highly significant association between OFCs and deletions on chromosome 7p14.1 (p=1.32e-35) driven by Central and South American ancestry (p=1.04e-25) participants, with less significant contributions from European (p=3.37e-08) and Asian (p=0.01) ancestry participants. We also observed four other loci with p-values below 10e-04. The 7p14.1 association observed in our study is a replication of two prior studies in independent cohorts of European ancestry. However, this locus lies in a T-cell receptor region that is subject to somatic rearrangements that decrease in frequency with age and may affect genetic association results. Our data show age effects as well as differences between blood and saliva samples. Thus, our results can be interpreted either as supporting a previously established association with orofacial clefts, or as questioning those previous results in favor of a hypothesis about the behavior of somatic rearrangements in T-cell receptor regions.

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

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Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.

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

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Otopalatodigital Syndrome Type 2: A Case Report.

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2026

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

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

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

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

bioRxiv : the preprint server for biology
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Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

AJNR. American journal of neuroradiology
2026

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.

medRxiv : the preprint server for health sciences
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

Minor modification of soft palate surgical technique resulted in a considerable increase of residual cleft dimensions for unilateral cleft lip and palate.

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

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Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.

American journal of medical genetics. Part A
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Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

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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.

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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
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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.

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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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Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

Cureus
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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.

Stomatologija
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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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rs2033806 at PAX3 Gene Associated with Non-syndromic Oral Cleft among the Chinese Population.

The Chinese journal of dental research
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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.

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

Molecular genetics &amp; genomic medicine
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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.

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Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.

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Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.

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

Cureus
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[Parent-of-origin effects of FGF/FGFR signaling pathway candidate gene polymorphisms on the risk of non-syndromic cleft lip with or without cleft palate].

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

Clinical epigenetics
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Surgical treatment of 89 patients with craniofacial microsomia in a craniofacial national reference centre in Finland.

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Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.

Human mutation
2026

Clinical outcomes of gingivoperiosteoplasty performed in early childhood in patients with bilateral cleft lip and palate.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
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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
2026

Congenital palatal fistula associated with submucous cleft palate: Surgical outcomes and insights from a case series of 27 patients.

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

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

Cleft Hand and Foot Syndrome: A Report of Three Cases with Review of Literature.

Journal of orthopaedic case reports
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

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.

The journal of gene medicine
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
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

Cleft@18-23 study research clinics: a protocol for a multicentre observational study across UK cleft centres to understand variation in outcomes at the end of routine cleft care.

BMJ open
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
2026

Polymorphisms in congenital heart disease and extracardiac disorders.

Clinica chimica acta; international journal of clinical chemistry
2025

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Human molecular genetics
2025

Faltering weight in infants with cleft lip and palate.

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

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

Archives of gynecology and obstetrics
2026

Psychological, Medical and Educational Experiences of Adolescents With Orofacial Clefts in South Australia.

International journal of paediatric dentistry
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

Quality of life of children treated for cleft lip or palate in a selected South African population: a questionnaire-based survey of guardian/parent perspectives.

Oral and maxillofacial surgery
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
2026

Nasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.

The Journal of craniofacial surgery
2026

Genetic Landscape of Robin Sequence: A Systematic Review.

Clinical genetics
2025

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Human molecular genetics
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
2026

Comparative Analysis of Maxillary Sinus Volume in Patients With Cleft Lip and Palate Versus Class III Malocclusion Patients Using CBCT.

Orthodontics &amp; craniofacial research
2025

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

American journal of human genetics
2025

The endocrine spectrum of Rathke cleft cysts.

Frontiers in endocrinology
2025

VACTERL Association and Unilateral Lambdoid Craniosynostosis.

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

Three-dimensional longitudinal assessment of nasal development with and without Nasoalveolar molding therapy in cleft lip and palate patients.

Clinical oral investigations
2026

Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.

American journal of medical genetics. Part A
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

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

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

Type of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.

The Journal of craniofacial surgery
2025

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

Molecular genetics &amp; genomic medicine
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
2025

A Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non-Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia.

Congenital anomalies
2025

Cancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review.

Birth defects research
2026

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

Journal of anatomy
2025

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

Child: care, health and development
2025

Does Pterygoid Hamulotomy During Palatoplasty Affect Hearing Outcomes in Nonsyndromic Cleft Palate Patients?

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

[Advances in animal models and multi-omics technologies for cleft palate research].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2025

[Association analysis of methylation-related genes TET1 and NSD1 with non-syndromic orofacial clefts].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2025

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

American journal of human genetics
2026

Cleft lip and palate are associated with a higher prevalence of molar-incisor hypomineralisation: a cross-sectional study with a comparison group.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2025

Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.

Genes
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

Evaluation of dental and skeletal age among unilateral cleft lip and palate patients in an eastern Indian population.

The Journal of forensic odonto-stomatology
2025

Beyond the face: multidimensional care challenges and unmet needs in Hemifacial Microsomia families.

Frontiers in public health
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

Application of four-section approach for prenatal diagnosis of Pierre robin sequence.

Journal of medical ultrasonics (2001)
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

Airway Management in Children Undergoing Cleft Lip or Cleft Palate Surgery: An 8-Year Retrospective Analysis of 274 Cases.

Paediatric anaesthesia
2025

All-trans Retinoic Acid regulates cellular senescence of mouse embryonic palatal mesenchyme (MEPM) cells in developing cleft palates.

Reproductive toxicology (Elmsford, N.Y.)
2025

Comparison of secondary surgery before and after centralisation of cleft services in the UK: a whole-island cross-sectional analysis.

BMJ open
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

Alveolar cleft repair: A 30-year follow-up.

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

Effects of Maxillary Protraction Techniques on Maxillofacial, Dental, and Soft Tissue Outcomes in Patients With Non-Syndromic Unilateral Cleft Lip and Palate: A Systematic Review and Meta-Analysis.

Orthodontics &amp; craniofacial research
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

EMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.

Development (Cambridge, England)
2026

Epidemiologic Assessment and Quality of Life Impact of Sinonasal Disease in Cleft Lip and Palate.

The Laryngoscope
2025

Assessment of symmetry and parental satisfaction after use of customized nasal conformers in unilateral cleft lip repair: a randomized controlled clinical trial.

Head &amp; face medicine
2025

Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.

Communications 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

Silver-Russell syndrome: phenotype features and oral health status.

Orphanet journal of rare diseases
2025

Balancing intervention and complications: management of otitis media with effusion in children with cleft palate.

The Turkish journal of 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

Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.

Birth defects research
2025

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.

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

Long-Term Impact of Tricuspid Valve Intervention on Survival, Tricuspid Valve, and Ventricular Function in Hypoplastic Left Heart Syndrome.

The Annals of thoracic surgery
2025

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Annals of plastic surgery
2025

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Nature communications
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

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

International journal of pediatric otorhinolaryngology
2025

De Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus.

Journal of veterinary internal medicine
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

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Descriptive epidemiology of orofacial clefts in South Australia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
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
2026

Speech Outcome Following Autologous Fat Grafting in Soft Palate for Velopharyngeal Insufficiency.

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

Management and Outcomes of Postoperative Airway Obstruction in Patients After Tissue-Augmentation Palatoplasty.

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

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.

American journal of medical genetics. Part A
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

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

Speech Outcomes After Secondary Furlow Z-Plasty and Pharyngeal Flap Procedure.

The Journal of craniofacial surgery
2025

RHOA-associated disorder can be non-mosaic.

European journal of medical genetics
2025

Craniopharyngioma, Rathke Cleft Cyst, and Empty Sella Natural History and Endocrine Outcome in Pediatric Age: A Single Tertiary Center Experience over the 2000-2024 Period.

Neuroendocrinology
2025

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

The Journal of craniofacial surgery
2025

Multidisciplinary approach to airway management in Pierre Robin sequence: beyond tracheostomy.

International journal of pediatric otorhinolaryngology
2025

A new option of reconstruction after extensive chest wall resection.

Clinics (Sao Paulo, Brazil)
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

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

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

American journal of otolaryngology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.
    International journal of molecular sciences· 2026· PMID 41828317mais citado
  3. Orofacial clefting in PHF6-related B&#xf6;rjeson-Forssman-Lehmann syndrome.
    BMJ case reports· 2026· PMID 41741118mais citado
  4. Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.
    BMC pediatrics· 2026· PMID 41664044mais citado
  5. Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
    medRxiv : the preprint server for health sciences· 2026· PMID 41646774mais citado
  6. A Review of Artificial Intelligence in Craniofacial Surgery: Clinical Applications Beyond 3D Printing.
    J Craniofac Surg· 2026· PMID 41773851recente
  7. Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.
    Arch Gynecol Obstet· 2026· PMID 41563506recente
  8. Microsurgical Reconstruction of the Columella With a First Web Space Free Flap: A Case Report and Review of Techniques.
    Microsurgery· 2026· PMID 41503949recente
  9. BACH1 is stabilized by vitamin E and attenuates the formation of hypertrophic scar through the Wnt/β-catenin pathway.
    Burns· 2026· PMID 41380219recente
  10. Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.
    J Vis Exp· 2025· PMID 41284682recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:77300(Orphanet)
  2. MONDO:0019178(MONDO)
  3. GARD:18933(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55788517(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 anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares
Compêndio · Raras BR

Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares

ORPHA:77300 · MONDO:0019178
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Unknown
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4518478
Wikidata
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