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Fenda facial número 4 de Tessier
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Introdução

O que você precisa saber de cara

📋

Uma fenda facial é uma abertura ou lacuna na face, ou uma malformação de uma parte do rosto. Fendas faciais é um termo coletivo para todos os tipos de fendas. Todas as estruturas, como osso, tecido mole, pele, etc., podem ser afetadas. As fendas faciais são anomalias congênitas extremamente raras. Existem muitas variações de um tipo de fenda e classificações são necessárias para descrever e classificar todos os tipos de fissura.

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
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q18.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Características mais comuns

100%prev.
Fissura palatina
Obrigatório (100%)
100%prev.
Microftalmia
Obrigatório (100%)
100%prev.
Fenda facial Tessier número 4
Obrigatório (100%)
100%prev.
Pé torto calcaneovalgo
Obrigatório (100%)
100%prev.
HP:0003577
Obrigatório (100%)
17%prev.
Prega palmar profunda
Ocasional (29-5%)
10sintomas
Muito frequente (5)
Ocasional (2)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

Fissura palatinaCleft palate
Obrigatório (100%)100%
MicroftalmiaMicrophthalmia
Obrigatório (100%)100%
Fenda facial Tessier número 4Tessier number 4 facial cleft
Obrigatório (100%)100%
Pé torto calcaneovalgoTalipes calcaneovalgus
Obrigatório (100%)100%
HP:0003577
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos22publicações
Pico20174 papers
Linha do tempo
2026Hoje · 2026📈 2017Ano 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

1 gene identificado com associação a esta condição. Padrão de herança: Unknown.

SPECC1LCytospin-ADisease-causing germline mutation(s) 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

Variantes genéticas (ClinVar)

119 variantes patogênicas registradas no ClinVar.

🧬 SPECC1L: NM_015330.6(SPECC1L):c.1694A>G (p.Tyr565Cys) ()
🧬 SPECC1L: NM_015330.6(SPECC1L):c.2530C>T (p.Leu844Phe) ()
🧬 SPECC1L: NM_015330.6(SPECC1L):c.741_745delinsAA (p.Glu248_Gln249delinsLys) ()
🧬 SPECC1L: NM_015330.6(SPECC1L):c.1341G>C (p.Glu447Asp) ()
🧬 SPECC1L: NM_015330.6(SPECC1L):c.574G>T (p.Ala192Ser) ()
Ver todas no ClinVar

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 — Fenda facial número 4 de Tessier

🗺️

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

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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.

#2

The Presentation Patterns of Tessier 7 Clefts.

The Journal of craniofacial surgery2026

Given its rarity, there are few large-number studies regarding Tessier 7 clefts. A review and classification of 81 Tessier 7 patients who presented to our craniofacial center was performed. The most common Tessier 7 clefts were middle positioned, followed by agenetic, superiorly rotated, and inferiorly rotated clefts, respectively. A total of 77/81 patients had simple macrostomia and 4/81 patients had macrostomia with muscle diastasis. The most common associated anomalies were craniofacial microsomia, skin tags, and ear anomalies occurring in 80%, 71%, and 37% of patients, respectively. In this cohort, the most common subsequent procedures performed in our center were orthognathic surgery (15), fat grafting (11), and facial contouring (7). This information can assist clinicians in patient assessment, family counseling, and refining surgical planning. In this work, we compared our results to other centers by performing a meta-analysis and found we had a higher rate of left-sided clefts, craniofacial microsomia, and simple macrostomia. Our rates of bilaterality and gender distribution were similar to that of other centers. A review of 766 Tessier 7 presentations across 34 recent studies demonstrated unilateral clefts in 84.3% and bilateral clefts in 15.7% overall. Up to 62% of black African patients had bilateral Tessier 7 presentations. There was also increased rates of associated craniofacial microsomia in ethnically Chinese population groups. Overall review of 766 patients demonstrated more right-sided clefts than left, and a slight female preponderance.

#3

Clinical Manifestations of and Surgical Treatment Strategies for Tessier No. 3 and No. 4 Clefts in Chinese Patients: A Large Retrospective Case Series.

The Journal of craniofacial surgery2025 Sep 01

Tessier no. 3 and no. 4 clefts are rare and difficult-to-treat orbitofacial malformations. The aim of the present study is to describe the clinical manifestations of these rare clefts observed in 21 patients treated with surgery over the past 15 years. The clinical data of all patients with Tessier no. 3 and no. 4 clefts treated between 2009 and 2024 by a single senior surgeon were reviewed. The patient's demographic data and associated clinical findings, including eyelid, lacrimal system, and eyeball anomalies, were recorded. The reconstruction methods used for each patient were noted and evaluated retrospectively. This study included 21 eyes of 21 patients with Tessier no. 3 and no. 4 clefts who underwent plastic surgery. Eight males and thirteen females were identified, and the age at initial treatment ranged from 1 to 20 years. A lower eyelid coloboma was observed in most patients (14 patients); 12 of whom presented with medial canthus dystopia. Seven patients presented with isolated medial canthus dystopia. Thirteen patients had lacrimal system anomalies. Microphthalmia and ipsilateral anophthalmia were detected in 5 and 3 patients, respectively. Satisfactory esthetic and functional outcomes were achieved in all patients owing to the use of traditional techniques and techniques modified by the authors. The clinical manifestations of Tessier no. 3 and no. 4 facial clefts vary, thus treatment plans and techniques must be personalized to meet the needs for each patient.

#4

Bilateral Tessier Craniofacial Cleft Associated to Cleft Palate.

The Journal of craniofacial surgery2025

This case report presents the rare association of Tessier number 4 and 5 facial clefts with a palatal cleft in a 4-month-old infant, encountered during a humanitarian mission in Sabou, Burkina Faso. The patient, born with bilateral facial clefts and right anophthalmia, was planned for a 2-step surgical approach. The first surgery addressed the facial clefts, including a modified unilateral cleft lip repair and Z-plasty techniques for the left Tessier number 5 cleft. The second surgery, palatoplasty will be performed in the next mission. Follow-up assessments showed excellent outcomes, including improved facial aesthetics and ocular protection. The etiology of Tessier clefts remains uncertain, with multiple contributing factors such as genetic predisposition, craniofacial embryogenesis, and environmental influences. This case highlights the challenges of managing complex craniofacial deformities in resource-limited settings and underscores the importance of humanitarian missions in providing life-changing care to patients with limited access to specialized treatments.

#5

Tessier Craniofacial Clefts.

Clinics in plastic surgery2025 Apr

Craniofacial clefts are extremely rare. In 1976, Paul Tessier developed a comprehensive numerical classification system to categorize craniofacial clefts based on precise anatomic location. In order to comprehend craniofacial cleft development, it is crucial to understand embryologic development of the face. Craniofacial clefts can be classified into 4 main categories: oral-nasal (number 0-3), oral-ocular (number 4-6), lateral face (number 7-9), and cranial (number 10-14). Treatment goals include restoring oral competence and function, achieving nasal symmetry, establishing separation of anatomically distinct cavities, addressing orbital asymmetries, hypotelorism, or hypertelorism, and reconstructing cranial defects caused from encephaloceles.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 22

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

The Presentation Patterns of Tessier 7 Clefts.

The Journal of craniofacial surgery
2025

Clinical Manifestations of and Surgical Treatment Strategies for Tessier No. 3 and No. 4 Clefts in Chinese Patients: A Large Retrospective Case Series.

The Journal of craniofacial surgery
2025

Bilateral Tessier Craniofacial Cleft Associated to Cleft Palate.

The Journal of craniofacial surgery
2025

Tessier Craniofacial Clefts.

Clinics in plastic surgery
2024

Atypical facial clefts: Tessier number 3 and 4 clefts.

Current opinion in otolaryngology &amp; head and neck surgery
2022

The Anatomical Subunit Approach to Managing Tessier Numbers 3 and 4 Craniofacial Clefts.

Plastic and reconstructive surgery. Global open
2022

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

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

Alar Rim Triangular Flap for Congenital Nasal Cleft Repair in Pediatric Patients.

The Journal of craniofacial surgery
2021

Reconstruction of Congenital Alar Rim Defects (Tessier Number 1 Cleft) Using Laterally Based Alar Subunit Rotation Advancement Flap.

Annals of plastic surgery
2020

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

Craniomaxillofacial trauma &amp; reconstruction
2020

Anatomical Classification of Tessier Craniofacial Clefts Numbers 3 and 4.

The Journal of craniofacial surgery
2019

Surgical Management of Median Cleft Lip Extending as Far as Alveolus Using Bone Grafting.

The Bulletin of Tokyo Dental College
2018

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

The Journal of craniofacial 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

A rare case of cleft number nine associated with atypical cleft number two.

Indian journal of ophthalmology
2017

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

The Journal of craniofacial surgery
2017

Prenatal ultrasound diagnosis of Tessier number 7 cleft: Case report and review of the literature.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2017

Technique of primary operation for a patient with an oblique facial cleft (Tessier number 2 cleft).

The British journal of oral &amp; maxillofacial surgery
2016

Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction.

The Journal of craniofacial surgery
2016

A New Surgical Approach for Tessier No. 4 Facial Cleft Reconstruction: Lip-Rescue Flap.

The Journal of craniofacial surgery
2015

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.

Clinical dysmorphology

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

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. 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
  2. The Presentation Patterns of Tessier 7 Clefts.
    The Journal of craniofacial surgery· 2026· PMID 41118488mais citado
  3. Clinical Manifestations of and Surgical Treatment Strategies for Tessier No. 3 and No. 4 Clefts in Chinese Patients: A Large Retrospective Case Series.
    The Journal of craniofacial surgery· 2025· PMID 40193142mais citado
  4. Bilateral Tessier Craniofacial Cleft Associated to Cleft Palate.
    The Journal of craniofacial surgery· 2025· PMID 40043301mais citado
  5. Tessier Craniofacial Clefts.
    Clinics in plastic surgery· 2025· PMID 39986881mais citado
  6. Atypical facial clefts: Tessier number 3 and 4 clefts.
    Curr Opin Otolaryngol Head Neck Surg· 2024· PMID 38900216recente
  7. Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?
    Cleft Palate Craniofac J· 2022· PMID 34514882recente
  8. Alar Rim Triangular Flap for Congenital Nasal Cleft Repair in Pediatric Patients.
    J Craniofac Surg· 2022· PMID 34320576recente
  9. Reconstruction of Congenital Alar Rim Defects (Tessier Number 1 Cleft) Using Laterally Based Alar Subunit Rotation Advancement Flap.
    Ann Plast Surg· 2021· PMID 34253699recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:141258(Orphanet)
  2. OMIM OMIM:600251(OMIM)
  3. MONDO:0010850(MONDO)
  4. GARD:16974(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55782837(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

Fenda facial número 4 de Tessier
Compêndio · Raras BR

Fenda facial número 4 de Tessier

ORPHA:141258 · MONDO:0010850
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Unknown
CID-10
Q18.8 · Outras malformações congênitas especificadas da face e do pescoço
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1838348
EuropePMC
Wikidata
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