Raras
Buscar doenças, sintomas, genes...
Fenda facial
ORPHA:141229CID-11 · LA51DOENÇA RARA

Anormalidade congênita que consiste em uma abertura ou lacuna na face, que resulta da fusão incompleta de uma ou mais proeminências faciais embrionárias.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Anormalidade congênita que consiste em uma abertura ou lacuna na face, que resulta da fusão incompleta de uma ou mais proeminências faciais embrionárias.

Publicações científicas
597 artigos
Último publicado: 2026
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
5 sintomas
🫃
Digestivo
3 sintomas
🫘
Rins
2 sintomas
🦴
Ossos e articulações
2 sintomas
👂
Ouvidos
2 sintomas
🧠
Neurológico
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

Fístula retovaginal
Deficiência intelectual, leve
Anomalia de Ebstein da valva tricúspide
Agenesia renal
Hélice superdobrada
Braquicefalia
21sintomas
Sem dados (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.

Fístula retovaginalRectovaginal fistula
Deficiência intelectual, leveIntellectual disability, mild
Anomalia de Ebstein da valva tricúspideEbstein anomaly of the tricuspid valve
Agenesia renalRenal agenesis
Hélice superdobradaOverfolded helix

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico597PubMed
Últimos 10 anos200publicações
Pico202536 papers
Linha do tempo
2026Hoje · 2026🧪 1996Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição.

FREM1FRAS1-related extracellular matrix protein 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

MECANISMO DE DOENÇA

Bifid nose, with or without anorectal and renal anomalies

A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
12.8 TPM
Cérebro - Hemisfério cerebelar
11.8 TPM
Cerebelo
11.7 TPM
Aorta
8.8 TPM
Artéria tibial
8.2 TPM
OUTRAS DOENÇAS (5)
oculotrichoanal syndromeBNAR syndrometrigonocephaly 2renal agenesis, unilateral
HGNC:23399UniProt:Q5H8C1
SPECC1LCytospin-ACandidate gene tested inAltamente restrito
FUNÇÃO

Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCytoplasm, cytoskeleton, spindleCell junction, gap junction

MECANISMO DE DOENÇA

Facial clefting, oblique, 1

A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
57.8 TPM
Esôfago - Muscular
43.6 TPM
Artéria tibial
43.1 TPM
Cérebro - Hemisfério cerebelar
41.4 TPM
Útero
41.1 TPM
INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (3)
Tessier number 4 facial cleftTeebi hypertelorism syndrome 1commissural facial cleft
HGNC:29022UniProt:Q69YQ0
PTCH2Protein patched homolog 2Candidate gene tested inTolerante
FUNÇÃO

Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
Class B/2 (Secretin family receptors)
MECANISMO DE DOENÇA

Medulloblastoma

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
50.1 TPM
Ovário
41.7 TPM
Nervo tibial
32.2 TPM
Cerebelo
23.6 TPM
Cérebro - Hemisfério cerebelar
20.7 TPM
OUTRAS DOENÇAS (4)
medulloblastomabasal cell carcinoma, susceptibility to, 1commissural facial cleftnevoid basal cell carcinoma syndrome
HGNC:9586UniProt:Q9Y6C5

Variantes genéticas (ClinVar)

1,990 variantes patogênicas registradas no ClinVar.

🧬 PTCH2: NM_003738.5(PTCH2):c.2524A>G (p.Arg842Gly) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.87C>A (p.Ser29Arg) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.522G>A (p.Glu174=) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.2192_2193delinsAA (p.Leu731Gln) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.1600G>A (p.Val534Met) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Fenda facial

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

7 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
228 papers (10 anos)
#1

Midline congenital upper lip sinus: a rare clinical case with analytical review of diagnostic and therapy strategies.

Frontiers in pediatrics2026

Congenital midline sinus of the upper lip is rarest malformation with or without other anomalies. Mostly the sinus opens below the white role on the vermilion and has no intra-oral communication. To date, there have been only several case reports of upper lip sinuses associated with other anomalies, such as cleft palate or transverse facial cleft in China. We herein present a case of congenital upper lip sinus in the middle of the philtrum presenting as whitish discharge used to come out of it and review the current literature on this condition.

#2

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases2026 Apr

Teebi hypertelorism syndrome (THS) is a rare, autosomal dominant craniofacial malformation disorder, characterized by orbital hypertelorism and characteristic craniofacial features, including a prominent forehead, wide arched eyebrows, short broad nasal root and tip, a thin upper lip, and a small chin. In addition to the characteristic phenotypic traits, systemic malformations may involve the limbs, central nervous system, urogenital tract, uterus, umbilicus (omphalocele), or cardiac system. Most cases can now be attributed to pathogenic variants in the SPECC1L gene on chromosome 22q11.23, leading to what is known as SPECC1L-related hypertelorism syndrome, which is associated with disruption of a cytoskeletal cross-linking protein. This protein is crucial for normal craniofacial morphogenesis during neural crest cell migration and midline facial formation. To date, there are no previous reports of anesthetic care in a patient with THS. We present a 4-year-old child with THS who presented for anesthetic care during thoracic laminectomy and excision of an intradural mass. We explore the history and clinical presentation of the disorder, outline end-organ involvement, and discuss perioperative concerns.

#3

Transverse facial cleft repair: Preventing pigmentation around the postoperative scar by excising the pigmented white lip at the cleft margin-A retrospective case series of Japanese patients.

JPRAS open2026 May

Numerous transverse facial cleft repair techniques and designs have been described; however, a complication of surgical reconstruction is scar formation with brown discoloration. This study investigated the histological basis of the darker white lip at the cleft margin, its role in postoperative brown discoloration, and the potential esthetic benefits of extending the excision. In this retrospective analysis, patients with transverse facial cleft were divided into limited and extended excision groups. Histological assessment of melanin pigment was performed using Fontana-Masson staining, and postoperative buccal scars were evaluated from photographs using the Stony Brook Scar Evaluation Scale. The Mann-Whitney U test was used for statistical analysis. We divided 16 Japanese patients (4 boys and 12 girls) into limited (n = 9) and extended excision groups (n = 7). The cleft length was 8.6 ± 2.1 and 8.9 ± 3.3 mm in the limited and extended excision groups, respectively, with unilateral/bilateral laterality being 9/0 and 6/1, respectively. Initial surgeries for both groups were performed at 11.4 ± 8.4 and 8.3 ± 7.7 months, and scar evaluations were based on photographs obtained at 47.8 ± 13.5 and 27.1 ± 14.2 months, respectively. Histology showed increased melanin in the darker area of the white lip at the cleft margin, with markedly reduced pigment density in the normal-toned area. The extended excision group had less colored scar than the limited excision group (p < 0.05). Incorporating pericleft pigmentation excision into surgical design may reduce postoperative periscar hyperpigmentation and improve esthetic outcomes for several years.

#4

Bilateral Cheilorhinoplasty Techniques May Be Applied to an Incomplete Rare Facial Cleft: Case Report and Literature Review.

Plastic and reconstructive surgery. Global open2026 Feb

Tessier 0, or midline facial clefts, is one of the most common presentations among craniofacial clefts; however, there may be a diverse severity in presentations. This report applies established methods in bilateral lip repair to an incomplete Tessier 0 presentation. The report reviews literature available on midline facial clefts and contrasts the proposed application with a single straight-line repair. Tessier 0 clefts are rare, with an estimated incidence ranging from 1.4 to 4.9 per 100,000 live births. About 80 cases have been described in the literature; however, these may be underreported. Standard bilateral cheilorhinoplasty techniques previously described may be used for these relatively rare cases. The application of established methods for bilateral cleft lip/nose primary care may be performed for variants of rare facial clefting.

#5

Modiolus-Based Dynamic Reconstruction for Transverse Facial Cleft: A Retrospective Cohort Study.

Plastic and reconstructive surgery2026 Jan 26

Transverse facial cleft is a rare congenital craniofacial anomaly that significantly impacts both aesthetic appearance and functional integrity of the oral commissure. Current surgical techniques demonstrate suboptimal efficacy in restoring commissural morphology and facial symmetry. To further optimize surgical outcomes, we enhanced the conventional approach by incorporating anatomical reconstruction of the modiolus and orbicularis oris, and evaluated its long-term aesthetic outcomes in the symmetry of commissure compared with conventional methods. This single-center cohort study retrospectively analyzed 20 patients who underwent unilateral transverse facial cleft repair between May 2015 and October 2023. The cohort comprised two groups: (1) conventional repair group (n=9) and (2) priority modiolus reconstruction group (n=11). Objective anthropometric measurements were obtained at preoperative, immediate postoperative, and long-term follow-up stages. Subjective evaluations were performed using Face-Q and Visual Analog Scale (VAS) questionnaires. Immediate postoperative assessment revealed significant improvement in the lower cheilion spread angle (ΔLCSA) in the modiolus reconstruction group compared to controls (8.22 ± 5.43 vs. 3.67 ± 2.99, p = 0.045). Long-term follow-up demonstrated significant differences in four key perioral measurements: ΔUCSA (10.04 ± 6.83 vs. 4.56 ± 1.78, p = 0.046), ΔLCSA (9.47 ± 5.19 vs. 3.94 ± 2.78, p = 0.014), ΔLs-Ch (9.75 ± 5.91 vs. 3.82 ± 1.95, p = 0.004) and Δl-Ch (10.59 ± 5.41 vs. 3.89 ± 3.32, p = 0.006), indicating enhanced commissural symmetry, particularly during mouth-opening. Professional evaluation using VAS for commissural symmetry were also significantly higher in the reconstruction group at long-term follow-up (7.78 ± 0.75 vs. 8.45 ± 0.58, p = 0.042). In patients with unilateral transverse facial cleft, priority modiolus reconstruction is associated with superior static and dynamic symmetry of commissure compared with conventional repair, with maintained long-term outcomes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC221 artigos no totalmostrando 196

2026

Midline congenital upper lip sinus: a rare clinical case with analytical review of diagnostic and therapy strategies.

Frontiers in pediatrics
2026

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases
2026

Transverse facial cleft repair: Preventing pigmentation around the postoperative scar by excising the pigmented white lip at the cleft margin-A retrospective case series of Japanese patients.

JPRAS open
2026

Bilateral Cheilorhinoplasty Techniques May Be Applied to an Incomplete Rare Facial Cleft: Case Report and Literature Review.

Plastic and reconstructive surgery. Global open
2026

Modiolus-Based Dynamic Reconstruction for Transverse Facial Cleft: A Retrospective Cohort Study.

Plastic and reconstructive surgery
2025

Management of tessier cleft 7: A case report.

National journal of maxillofacial surgery
2025

Challenges and Outcomes of Rare Cranio Facial Clefts: Parents Perspective.

Journal of maxillofacial and oral surgery
2025

Facial Clefts and the Trigeminal Nerve: A Narrative Review of the Literature and Clinical Considerations in the Era of Personalized Medicine.

Journal of personalized medicine
2025

Overexpression of miR-320-3p, miR-381-3p, and miR-27a-3p Suppresses Genes Related to Midline Facial Cleft in Mouse Cranial Neural Crest Cells.

International journal of molecular sciences
2025

Unilateral Craniofacial Microsomia with Severe Tessier No. 7 Cleft and Mandibular Agenesis: A Rare Case Report.

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

Long-Term Follow-Up of the Patients With Combined Tessier Number 7 Cleft and Unilateral Cleft Lip.

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

The Presentation Patterns of Tessier 7 Clefts.

The Journal of craniofacial surgery
2025

Foundation and Innovation in Lip, Palate, and Facial Cleft Care.

Facial plastic surgery clinics of North America
2025

Mastering the Art of Symmetry: Long-Term Outcomes and Management in Patients with Tessier No. 7 Cleft.

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

Uncovering the hidden hunger in translational research for periconceptional folic acid awareness among health care providers.

Journal of family medicine and primary care
2025

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Frontiers in medicine
2026

Long-Term Outcomes After Orbital Hypertelorism Correction: An Assessment of Objective Photogrammetric and Patient-Reported Outcomes.

The Journal of craniofacial surgery
2025

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

Frontiers in public health
2025

Transverse Facial Cleft: An Unusual Cause of Asymmetric Crying Facies.

Indian journal of pediatrics
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

Macrostomia Surgery Using Small Z-plasty for Construction of the Corner of the Mouth.

Plastic and reconstructive surgery. Global open
2025

Identification of functional non-coding variants associated with orofacial cleft.

Nature communications
2025

Commisuroplasty for Macrostomia in Tessier 7 Cleft Using Modified Vermillion Square Flap Technique.

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

A Population-Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis.

American journal of medical genetics. Part A
2025

Evaluation of Orbital Asymmetry in Patients with Unilateral Cleft Lip and Palate Using Cone Beam Computed Tomography.

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

Association between human cytomegalovirus infection and incidence of severe orofacial clefts: a series of rare cases.

BMC oral health
2025

Subcutaneous pedicle subunit flap for upper lip reconstruction.

JPRAS open
2025

Personal and Cultural Perceptions About Orofacial Clefts in the Democratic Republic of the Congo.

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

Postoperative Bleeding After Facial Cleft Repair: A Retrospective Review of TriNetX Database.

The Journal of craniofacial surgery
2025

Evaluating Geographic Distribution and Potential Environmental Risk Factors of Orofacial Cleft Anomalies Utilizing a Statewide Birth Defects Registry.

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

Challenges in nasal reconstruction for facial clefts Tessier 3 bilateral and Tessier 0: a staged surgical approach case report.

Maxillofacial plastic and reconstructive surgery
2025

Deep Learning-Based Assessment of Lip Symmetry for Patients With Repaired Cleft Lip.

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

Cleft-Related Revision Procedures: Surgeon Perspectives on Shared Decision-Making and a Decision Aid Prototype.

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

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

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

Multidisciplinary Oral Rehabilitation of Complex Frontonasal Dysplasia: A Case Report.

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

Benefit Finding in Craniofacial Conditions: A Qualitative Analysis of Patient and Parent Perspectives.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Main genetic entities associated with tooth agenesis.

Clinical oral investigations
2026

Single Stage Management of a Severe Form of Grade 3 Hypertelorism With Sincipital and Basal Encephaloceles-Lessons Learnt!

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Congenital teratoma of the oral cavity - the largest personal series of cases.

Oral and maxillofacial surgery
2026

True Median Cleft With Sinus Tract in the Nasal Septum: A Case Report.

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

The Correlation Between Static and Dynamic Facial Asymmetry in Unilateral Cleft Lip and Palate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Tessier 7 Cleft: Clinical Presentation and Surgical Correction in a Case Report.

Cureus
2024

Epidemiological profile of patients attending the maxillofacial prosthodontics unit at Ibn Sina University Hospital in Rabat, Morocco: a cross-sectional study.

The Pan African medical journal
2024

Facial Cleft in a Newborn.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

Reconstructive management of a patient with Tessier number 10 cleft.

Journal of surgical case reports
2025

"A Retrospective Evaluation of the Impact of Prenatal Diagnosis of Facial Clefts. Does Prenatal Diagnosis Matter?".

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

[Paramedian frontal clefts or superior orbital clefts].

Annales de chirurgie plastique et esthetique
2024

Optimal timing for plastic surgical procedures for common congenital anomalies: A review.

World journal of clinical pediatrics
2024

Reconstruction of oblique facial cleft deformity with adjacent flap and nasolabial flap: A case report.

International journal of surgery case reports
2024

Prenatal ultrasound diagnosis of an isolated right transverse facial cleft: A case report.

Asian journal of surgery
2024

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Prenatal diagnosis
2025

The Psychology of Patients With Oral-Facial Clefts: A Review of Victor Hugo's The Man Who Laughs ( L'homme qui rit ).

The Journal of craniofacial surgery
2025

Same-day Discharge for Cleft Palate Repair: A Single-Surgeon Retrospective Analysis.

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

Novel Technique for Median Cleft Lip Comprising the Simultaneous Formation of the Columella, Philtrum, and Cupid's Bow.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Prevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis.

PloS one
2024

Surgical reconstruction of the external nose: Alar rotational and hinged flap techniques for facial cleft Tessier 0-1 with lipoma on dorsal nasal region - A case report.

International journal of surgery case reports
2024

Bilateral Maxillary Duplication in Tessier No. 7 Cleft: An Uncommon Congenital Deformity with a Challenging Radiological Diagnosis.

Diagnostics (Basel, Switzerland)
2024

What We Learned from Performing the Inverse Malek Procedure to Repair Bilateral Cleft Lips and Palates: A Single-Center Retrospective Study.

Journal of clinical medicine
2025

Bilateral Cleft lip Simulation.

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

Validity of the Cleft Aesthetic Rating Scale Does Not Improve with Inclusion of Fixed Scores for Atypical Outcomes.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Evaluation of a Novel Objective Method for The Assessment of Nasal Symmetry Among Patients with Unilateral Cleft Lip.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Neglected Case of Facial Cleft Associated with Adam Complex: Soft Tissue Reconstruction with Abbe Flap and Nasal Transposition-A Case Report.

Journal of maxillofacial and oral surgery
2024

Evaluation of Long-Term Outcomes of Transverse Facial Cleft Repair.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Refining macrostomia correction: Case series applying square flap technique and Z/W-plasty skin closure for enhanced aesthetic and functional outcome.

International journal of surgery case reports
2025

Whole Exome Sequencing Identifies Damaging Variants in Indonesians with Clefts.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Pregnancy with Facial Cleft: 20 Years of Experience at a Single Center.

The Israel Medical Association journal : IMAJ
2023

Comprehensive surgical reconstruction of Tessier number 7 congenital craniofacial cleft. A rare case report.

International journal of surgery case reports
2025

Amniotic Band Syndrome with Severe Facial Cleft: A Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Cleft Lip and Palate Antenatal Diagnosis: A Swiss University Center Performance Analysis.

Diagnostics (Basel, Switzerland)
2023

Surgical correction of Tessier cleft no. 7: A single center 18-year experience.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2023

Sonic hedgehog signaling in craniofacial development.

Differentiation; research in biological diversity
2023

Single-stage Repair of Bilateral Cleft Lip and Bilateral Transverse Facial Cleft in Goldenhar Syndrome: A Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Isolated Paramedian cleft of Lower LIP: A Rare Entity.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Airway management under general anesthesia for infants and young children with the first and second branchial syndrome featuring unilateral mandibular dysplasia: A case series of 8 children.

Journal of stomatology, oral and maxillofacial surgery
2023

Distribution and Phenotype of Goldenhar Syndrome and Its Association With Other Anomalies.

The Journal of craniofacial surgery
2023

Our experience in one-step closure of patients with facial clefts in Surakarta: Serial cases at Dr. Moewardi Hospital.

International journal of surgery case reports
2023

Tracheoesophageal Fistula with Bilateral Facial Cleft: A Rare Occurrence.

Journal of Indian Association of Pediatric Surgeons
2024

Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.

Archives of gynecology and obstetrics
2023

Association between air pollutants and birth defects in Xiamen, China.

Frontiers in pediatrics
2023

Amniotic band syndrome with CNS involvement: a pediatric neurosurgeon's dilemma-a case series and literature review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Single-Stage Posterior Vomerine Ostectomy and Primary Cheiloplasty in Patients with Bilateral Cleft Lip & Palate and Protuberant Premaxilla.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

A Proposal for the Classification of Temporomandibular Joint Disc Deformity in Hemifacial Microsomia.

Bioengineering (Basel, Switzerland)
2023

Focal Dermal Hypoplasia: Case Series.

Indian journal of dermatology
2023

Tessier 30 Facial Cleft: A Rare Craniofacial Anomaly.

International journal of clinical pediatric dentistry
2023

Bilateral Tessier no. 7 cleft with an accessory maxilla and osseous choristoma: a case report.

Journal of surgical case reports
2024

Unilateral Cleft lip and Palate: Long-Term Results of the Malek Technique.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

Goltz Syndrome Combined with Triple X Syndrome, a Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft.

Taiwanese journal of obstetrics &amp; gynecology
2024

A Unique Appliance for Median Facial Cleft Management With Sleep Apnea due to Undeveloped Nasal Septum: A Rare Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Surgical Correction of a Bifid Nose Deformity with a Split M-Shaped Flap.

Facial plastic surgery &amp; aesthetic medicine
2022

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.

Indian journal of ophthalmology
2022

Evaluation of prenatal breastfeeding workshop to inform and support mother with antenatal diagnosis of cleft lip/palate.

Journal of stomatology, oral and maxillofacial surgery
2022

3D printed models in pregnancy and its utility in improving psychological constructs: a case series.

3D printing in medicine
2022

Facial cleft presenting as a congenital facial papule.

Pediatric dermatology
2022

Primary care in early cleft lip and palate rehabilitation: A dental perspective.

Journal of family medicine and primary care
2022

Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review.

Case reports in perinatal medicine
2023

Analysis of the Results of Sonographic Screening Examinations According to the Maternity Guidelines Before and After the Introduction of the Extended Basic Screening (IIb Screening) in Hesse.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)
2023

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Criteria for early and late velopharyngoplasty in 61 children with cleft palate.

Journal of stomatology, oral and maxillofacial surgery
2021

Distraction Osteogenesis in a Tessier 6 Cleft After Fronto-Orbito-Zygomatic Osteotomy - A Case Report.

Annals of maxillofacial surgery
2022

Studies on teratogenic effect of ochratoxin A given via mouldy diet in mice in various sensitive periods of the pregnancy and the putative protection of phenylalanine.

Toxicon : official journal of the International Society on Toxinology
2022

Retinoic Acid Deficiency Underlies the Etiology of Midfacial Defects.

Journal of dental research
2021

Birth prevalence of orofacial cleft in a tertiary hospital in Riyadh, Saudi Arabia: A retrospective audit.

The Saudi dental journal
2023

Quality of Life After Orthognathic Surgery in Patients with Cleft: An Overview of Available Patient-Reported Outcome Measures.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Morphological Analysis of Nose in Patients of Tessier No. 0 Cleft With a Bifid Nose in China.

Frontiers in pediatrics
2021

A Comparative Prevalence of Birth Defects between Newborns of Immigrant and Native-Born Mothers in Taiwan: Ten Years of Population-Based Data.

International journal of environmental research and public health
2022

Presentation and surgical management of a patient with a true cleft mandible.

Journal of oral biology and craniofacial research
2021

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue.

Medicina (Kaunas, Lithuania)
2021

Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome.

Diagnostics (Basel, Switzerland)
2021

Paranasal transposition flap in facial soft tissue reconstruction of facial cleft Tessier type 3 & ADAM complex: A case report.

International journal of surgery case reports
2021

Fetal markers for the detection of infants with craniofacial malformation.

Seminars in fetal &amp; neonatal medicine
2021

Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing: A case report.

World journal of clinical cases
2021

Management of Large Dural Defect with CSF Leak in Hypertelorism Correction.

Annals of maxillofacial surgery
2022

Ectomesenchymal Chondromyxoid Tumor: A Rare Association With an Asymmetrical Soft Palate Cleft.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Tarsoconjunctival-Skin Flap as Another Option in Correcting Ectropion for Oro-Ocular Cleft Reconstruction: Report of 2 Cases.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Congenital Cheek Fistula: A Rare Case of Developmental Abnormality in the Buccal Area.

Cureus
2022

Tessier 30 Facial Clefts-A Literature Review of 72 Cases (1996-2020), Suggested Treatment Protocol, Outcome Measures, Minimum Dataset for Future Case Reports, and Registries.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2021

Effect of bilateral infraorbital nerve block on intraoperative anesthetic requirements, hemodynamics, glycemic levels, and extubation in infants undergoing cheiloplasty under general anesthesia.

Journal of dental anesthesia and pain medicine
2021

Preloaded Monoka (Lacrijet) and congenital nasolacrimal duct obstruction: Initial results.

Journal francais d'ophtalmologie
2021

An Extended 45-year Long-term Follow-up on a 1-13 Rare Facial Cleft Patient.

The Journal of craniofacial surgery
2021

[Ultrasound scan of a fetus with facial cleft must be done from the lip to the uvula].

Gynecologie, obstetrique, fertilite &amp; senologie
2021

A Rare Patient With Midline Facial Cleft.

The Journal of craniofacial surgery
2021

Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report.

BMC pediatrics
2021

Eyeball Preservation With Purse-String Conjunctival Closure for Melting Corneal Ulcer in Rare Facial Cleft.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Observation of the Epithelial Cell Behavior in the Nasal Septum During Primary Palate Closure in Mice.

Frontiers in physiology
2020

MISSED DIAGNOSIS OF ISOLATED BILATERAL TRANSVERSE FACIAL CLEFT: A CASE REPORT.

Annals of Ibadan postgraduate medicine
2020

Is intraoperative supplementation of dextrose essential for infants undergoing facial cleft surgeries?

Journal of anaesthesiology, clinical pharmacology
2020

Cleft of lip and palate: A review.

Journal of family medicine and primary care
2020

Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly.

Plastic and reconstructive surgery. Global open
2020

Rare Facial Cleft: Surgical Treatment and Middle-Term Follow-up During Charity Operation.

Craniomaxillofacial trauma &amp; reconstruction
2021

A systematic approach on the frequency of cleft lip/palate in pediatric patients with leukemia.

Journal of stomatology, oral and maxillofacial surgery
2020

Family Impact of Child Oro-Facial Cleft.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

True Median Cleft Lip-15 Years of Review and Prevalence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly.

Taiwanese journal of obstetrics &amp; gynecology
2020

Proatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Surgical management of the Tessier 7 cleft: A review and presentation of 5 cases.

JPRAS open
2020

Image-guided navigation surgery for bilateral choanal atresia with a Tessier number 3 facial cleft in an adult.

Archives of craniofacial surgery
2019

Frontonasal dysplasia: A case report.

Archives of craniofacial surgery
2019

[Application of modified vermillion flap and orbicularoris oris bundle anastomosis in repair of transverse facial cleft].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
2019

Orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty in a patient with a transverse facial cleft.

Maxillofacial plastic and reconstructive surgery
2019

A rare case of bilateral oblique facial cleft and accessory maxilla with repaired unilateral cleft lip and palate.

National journal of maxillofacial surgery
2019

Facial Cleft in a Mayan Figurine.

The Journal of craniofacial surgery
2019

A Rare Case of a Combination of Tessier Cleft 0 and 3 in a 4-Year-Old Child-A Case Report.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
2019

Transverse facial cleft (macrostomia) repair: Modification of a traditional technique.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2019

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.

Taiwanese journal of obstetrics &amp; gynecology
2019

Holoprosencephaly with Clefts: Data of 85 Patients, Treatment, and Outcome: Part 2: Management, Surgical Treatment, and Unexpected Aspects of Holoprosencephaly Cleft Patients.

Annals of maxillofacial surgery
2019

Holoprosencephaly with Clefts: Data of 85 Patients, Treatment and Outcome: Part 1: History, Subdivisions, and Data on 85 Holoprosencephalic Cleft Patients.

Annals of maxillofacial surgery
2019

Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure.

Journal of plastic surgery and hand surgery
2019

Bifid Tongue and Cleft Palate With and Without a Tessier 30 Facial Cleft: Cases of Rare Congenital Anomalies and a Review of Management and Literature.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2019

New Technologies in Rhinoplasty: A Comprehensive Workflow for Computer-assisted Planning and Execution.

Plastic and reconstructive surgery. Global open
2019

Oral and dental findings in emanuel syndrome.

International journal of paediatric dentistry
2019

Tessier 30 Median Mandibular Hard and Soft Tissue Cleft, One-Stage Reconstruction Using a Template-Guided Resorbable "U"-Shaped Plate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2019

Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.

Journal of dental research
2018

Single Stage Repair of #30 Facial Cleft with Bone Morphogenic Protein.

Plastic and reconstructive surgery. Global open
2019

Lateral Canthal Clefts of the Eyelid.

Ophthalmic plastic and reconstructive surgery
2019

The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex.

Journal of clinical ultrasound : JCU
2019

Complete bilateral Tessier's facial cleft number 5: surgical strategy for a rare case report.

Surgical and radiologic anatomy : SRA
2018

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

American journal of medical genetics. Part A
2019

Philtrum reconstruction in unilateral cleft lip repair.

International journal of oral and maxillofacial surgery
2019

Fgfr1 conditional-knockout in neural crest cells induces heterotopic chondrogenesis and osteogenesis in mouse frontal bones.

Medical molecular morphology
2018

Anatomic approximation approach to correction of transverse facial clefts.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2018

Approach to Half-Nose and Proboscis Lateralis.

The Journal of craniofacial surgery
2018

Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

Genetic epidemiology
2019

Diagnostic criteria in Pai syndrome: results of a case series and a literature review.

International journal of oral and maxillofacial surgery
2019

Atypical Facial Clefts From Northcentral Nigeria, Review of 36 Cases.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2018

Reconstruction of the oral commissure in patients with unilateral transverse facial cleft.

The British journal of oral &amp; maxillofacial surgery
2018

Effect of Using Ringer's Lactate, with and without Addition of Dextrose, on Intra-Operative Blood Sugar Levels in Infants Undergoing Facial Cleft Surgeries.

Anesthesia, essays and researches
2018

The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach.

The Journal of craniofacial surgery
2018

Could fetal reduction induce facial cleft? Report of a case.

The British journal of oral &amp; maxillofacial surgery
2018

Embryogenesis and Adult Life in the Absence of Intrinsic Apoptosis Effectors BAX, BAK, and BOK.

Cell
2018

Repairing a Facial Cleft by Polyether-Ether-Ketone Implant Combined With Titanium Mesh.

The Journal of craniofacial surgery
2018

Double limbal dermoid with Tessier's paramedian facial cleft.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2018

Anatomical repair of a bilateral Tessier No. 3 cleft by midfacial advancement.

Maxillofacial plastic and reconstructive surgery
2018

A Descriptive Study of Chlorhexidine as a Disinfectant in Cleft Palate Surgery.

Clinical medicine &amp; research
2018

Para commissural cleft of the lower lip: A first case described in the literature.

Journal of stomatology, oral and maxillofacial surgery
2018

Scar Management After Surgical Repair of Lateral Facial Clefts.

Journal of maxillofacial and oral surgery
2018

Compound mutations in Bmpr1a and Tak1 synergize facial deformities via increased cell death.

Genesis (New York, N.Y. : 2000)
2018

Computer-Assisted Surgery in Facial Bipartition Surgery.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2017

Ectopic Preauricular Sinus in a Facial Cleft and Microtia Patient.

Archives of craniofacial surgery
2017

Two-stage Corrections of Rare Facial Tessier's Cleft - 3,4,5,6,7.

Annals of maxillofacial surgery
2018

Tessier number 4 bilateral craniofacial cleft associated with amniotic band syndrome: 22 years of follow-up.

Journal of stomatology, oral and maxillofacial surgery
2017

Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound.

Taiwanese journal of obstetrics &amp; gynecology
2017

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.

Taiwanese journal of obstetrics &amp; gynecology
2018

Phenotypic spectrum of Tessier facial cleft number 5.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2017

Rare craniofacial cleft in a dark-skinned African population.

Nigerian medical journal : journal of the Nigeria Medical Association
2017

Pattern of maxillofacial surgical conditions in North Central Nigeria: A 5-year experience of an indigenous surgical mission.

Nigerian journal of clinical practice
2018

Prenatal 3D sonography of an isolated lateral facial cleft.

Journal of clinical ultrasound : JCU
2017

Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development.

Scientific reports
2017

[Approach of the unilateral cleft lip with Meara's cheiloplasty technique].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2017

Surgery Navigation in Treating Congenital Midfacial Dysplasia of Patients With Facial Cleft.

The Journal of craniofacial surgery
2017

Supernumerary Nostril: Two Years Follow-Up.

The Journal of craniofacial surgery
2017

Invasive cervical resorption and the oro-facial cleft patient: a review and case series.

British dental journal
2017

Management of a Large Frontal Encephalocoele With Supraorbital Bar Remodeling and Advancement.

The Journal of craniofacial surgery
2017

Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience.

Plastic and reconstructive surgery
2016

Cleft lip and palate: Parental experiences of stigma, discrimination, and social/structural inequalities.

Annals of maxillofacial surgery
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Doenças relacionadas

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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. Midline congenital upper lip sinus: a rare clinical case with analytical review of diagnostic and therapy strategies.
    Frontiers in pediatrics· 2026· PMID 41867938mais citado
  2. Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.
    Journal of medical cases· 2026· PMID 41821721mais citado
  3. Transverse facial cleft repair: Preventing pigmentation around the postoperative scar by excising the pigmented white lip at the cleft margin-A retrospective case series of Japanese patients.
    JPRAS open· 2026· PMID 41799641mais citado
  4. Bilateral Cheilorhinoplasty Techniques May Be Applied to an Incomplete Rare Facial Cleft: Case Report and Literature Review.
    Plastic and reconstructive surgery. Global open· 2026· PMID 41767578mais citado
  5. Modiolus-Based Dynamic Reconstruction for Transverse Facial Cleft: A Retrospective Cohort Study.
    Plastic and reconstructive surgery· 2026· PMID 41586536mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:141229(Orphanet)
  2. MONDO:0015411(MONDO)
  3. GARD:19964(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q5428558(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

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