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Fenda mediana do lábio inferior
ORPHA:2006CID-10 · Q36.1CID-11 · LA51DOENÇA RARA

Sistema ou aparelho reprodutor feminino é o sistema de órgãos femininos envolvidos na reprodução. É constituído por dois ovários, duas tubas uterinas, um útero, uma vagina, uma vulva. Ele está localizado no interior da cavidade pélvica. A pelve constitui um marco ósseo forte que realiza uma função protetora e dá sustentação ao sistema reprodutor feminino.[carece de fontes?

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Introdução

O que você precisa saber de cara

📋

Fenda facial mediana rara caracterizada por fenda mediana do lábio inferior (variando em extensão de um entalhe no lábio a uma fenda completa envolvendo a língua, lábio inferior e queixo e estendendo-se até à região cervical), fenda mediana da mandíbula (variando de um entalhe a uma fenda completa) e anomalias da língua, incluindo língua bífida e anquiloglossia. As características associadas em casos graves podem incluir ausência do hióide, da cartilagem tiroideia e do manúbrio esternal, bem como atrofia dos músculos do pescoço.

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
70
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q36.1
🇧🇷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

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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos22publicações
Pico20194 papers
Linha do tempo
20202015Hoje · 2026📈 2019Ano 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

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Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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 mediana do lábio inferior

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Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
0 papers (10 anos)
#1

Radiographic Evaluation of Impacted and Transmigrant Canines: Prevalence and Sex-Based Differences in an Orthodontic Cohort.

Dentistry journal2025 Aug 26

Background/Objectives: Impacted teeth are characterized by having more than three-quarters of root development completed, however failing to erupt or demonstrate imminent eruption, as evidenced both by clinical and radiographic evaluation. Canine impaction is an entity of clinical significance considering its potential to affect both oral function and facial aesthetics. If not appropriately managed, this condition may adversely impact functional occlusion and structural smile integrity. The purpose of the study was to investigate the prevalence of impacted and transmigrant canines in a Greek orthodontic cohort and identify potential sex-based differences. Methods: A total of 2594 panoramic radiographs and clinical records of consecutive patients in the mixed and permanent dentition stages, treated at the Department of Orthodontics of the Aristotle University of Thessaloniki, Greece, were retrospectively retrieved and analyzed to detect the presence of impacted and transmigrant canines. Patients lacking complete clinical records or panoramic radiograph, undergoing or had undergone orthodontic treatment, or presenting conditions affecting normal permanent dentition development, including pathological conditions, cleft lip and palate or hereditary disorders, were excluded. Results: At least one impacted canine was detected in 109 patients (67% females, 33% males), with a median age of 15 years (IQR: 13-18), documenting a 4.2% prevalence (6.97% females, 2.32% males). The frequency of maxillary canine impaction was 3.97%, while in the mandible a frequency of 0.46% was reported. The frequency of bilateral canine impaction was 1%, with it being present in 25.7% of patients with canine impaction. The prevalence of transmigrant canines was 0.11%, with detection solely in the mandible. A statistically significant sex difference was detected solely in the prevalence of impaction. Conclusions: Considering the implications of canine impaction, the epidemiological investigation of this entity may facilitate an early diagnosis and treatment.

#2

[Short and long-term results of bone grafting of the maxillary alveolar process in patients with alveolar ridge cleft].

Stomatologiia2025

Was to evaluate alveolar bone grafting success using the autograft from the mandibular body, own bone fragments and xenogeneic material. This study was conducted by Central Research Institute of Dentistry and Maxillofacial Surgery (Moscow, Russia) from 2013 through 2023. Consecutive 128 patients with cleft lip/palate who underwent alveolar bone grafting by one surgeon were included. The median age at alveolar bone graft was 12.7 years (range 7-23 years). Inclusion criteria were unilateral and bilateral cleft lip and alveolus and a computed tomography (CT) scan obtained >8 months (128 patients) and 2-10 years (range 3.2 years, 52 patients) after alveolar bone grafting. The success rate of surgical intervention was 92.6%. Alveolar bone graft undergoes remodeling but not lysis long-term. Alveolar bone grafting with mandibular bone proved to be effective and has demonstrated good long-term results. The bone level in the grafted area was satisfactory with no signs of resorption. Оценка эффективности костной пластики альвеолярного отростка верхней челюсти (АОВЧ) с использованием аутотрансплантата с тела нижней челюсти, собственной костной стружки и ксеногенного материала. Исследование проводилось на базе ФГБУ НМИЦ ЦНИИСиЧЛХ Минздрава России с 2013 по 2023 г. В исследование вошли 128 пациентов с одно- или двусторонней расщелиной АОВЧ в возрасте от 7 до 23 лет (средний — 12,7 года), ранее оперированных по поводу расщелины верхней губы и неба. Критерием включения являлось наличие у детей одно- или двусторонней расщелины АОВЧ и результатов КТ лицевого скелета в ближайшем (через 8 мес, 128 пациентов) и отдаленном (через 2—10 лет, в среднем 3,2 года, 52 пациента) периодах. Показатель успешности оперативного вмешательства составил 92,6%. Костный аутотрансплантат со временем подвергается ремоделированию, но не лизису. Описанная методика костной пластики АОВЧ является эффективной, обеспечивает полноценное замещение дефекта АОВЧ достаточным объемом костной ткани, которая со временем не подвергается резорбции.

#3

Prenatal Ultrasonic Features of Median Cleft of the Lower Lip and Mandible With Ankyloglossia: A Rare Case Report and Literature Review.

Journal of clinical ultrasound : JCU2025 Sep

Median cleft of the lower lip, midline mandibular cleft, or Tessier 30 cleft is a rare anomaly. We present a case involving the prenatal diagnosis of a median cleft of the lip and mandible associated with ankyloglossia, directly attached to the gingiva and lower lip. Postnatally, the condition was managed with a combined surgical approach of split labiaplasty and tongue-tie plasty in the stomatology department. The outcome was favorable following the transverse incision of the lower portion of the tongue-tie. The sonographer must carefully examine the craniofacial section to minimize the risk of missed diagnosis.

#4

Does Surgical Sequencing Influence the Accuracy of Maxillary Positioning in Bimaxillary Cleft Orthognathic Surgery?

Plastic and reconstructive surgery2025 Apr 01

The purpose of this study was to evaluate whether the sequence of osteotomies influences the accuracy of maxillary positioning in patients with cleft palate with or without cleft lip undergoing bimaxillary orthognathic surgery (OGS). This was a prospective study of patients with Veau II through IV clefts who underwent bimaxillary OGS at a tertiary-care children's hospital over a 3-year period. The primary predictor variable was the sequence of osteotomies (maxilla first versus mandible first). The primary outcome of interest was the concordance between the planned and achieved maxillary position, as assessed using linear and angular measurements. Secondary study predictors were demographic and surgical variables. Differences between groups were compared using nonparametric independent samples tests for continuous measures (data reported as median and interquartile range) and chi-square tests for categorical measures. For all analyses, P ≤ 0.05 was considered significant. Participants who underwent maxilla-first ( n = 15) and mandible-first ( n = 16) operations were comparable with regard to age, sex, cleft type, skeletal classification, segmental maxillary osteotomy, and magnitude of maxillary movement ( P ≥ 0.09). The planned sagittal and vertical positions of the maxilla were similarly accurate between the 2 groups ( P ≥ 0.68). Angular accuracy was also comparable ( P ≥ 0.56) between the study groups. In patients with cleft palate with or without cleft lip undergoing bimaxillary OGS, use of mandible-first sequencing, when compared with maxilla-first sequencing, does not affect the accuracy of maxillary positioning in the immediate postoperative period in well-selected patients. Therapeutic, II.

#5

Implementation of Mandibular Distraction Osteogenesis for Patients With Pierre Robin Sequence in a Developing Country Through International Collaboration: A Paradigm for Success.

The Journal of craniofacial surgery2024

Though it has made significant strides, Vietnam remains a resource-constrained country of 98 million people. Vietnam National Children's Hospital (VNCH) provides tertiary care to a catchment of 40 million people and is the sole national children's hospital. As such, it is one of the few referral centers in the country equipped to take care of patients diagnosed with Pierre Robin sequence (PRS) as this requires pulmonary, critical care, otolaryngology, and plastic surgery expertise. Before 2015, the only surgical options were tongue lip adhesion or tracheostomy. Only 20% of patients successfully avoided tracheostomy, mechanical ventilation, or death. From 2015 to 2019, mandibular distraction osteogenesis (MDO) was introduced by visiting international surgeons on a short-term basis. Since 2020, local surgeons at VNCH have refined their technique and widely use MDO independently. This report seeks to capitulate their experience and identify factors leading to success. A retrospective review was conducted of patients diagnosed with PRS at VNCH from 2015 to 2022. Paper records were digitized, translated, and reviewed for inclusion criteria, including demographics, indications, hospital course, and postoperative outcomes. Complete records satisfying inclusion criteria were available for 53 patients with a diagnosis of PRS who underwent MDO from 2020 to 2022. From 2015 to 2019, there were 19 cases of MDO, though records were incomplete. The median age at the time of MDO was 50 ± 43 days. Forty patients (75.5%) had isolated PRS and 13 (24.5%) were syndromic. Forty-four patients (83%) had a cleft palate. Fifty-one (96.2%) of patients required preoperative supplemental oxygen or mechanical ventilation. The active distraction and consolidation phase was 4.8 ± 1.3 months. The median days to discharge after surgery was 19.0 ± 8.3 days. Median weight at birth, at the time of surgery, and at the time of device removal were 6.8 ± 1.2, 7.7 ± 1.9, and 14.8 ± 2.8 pounds, respectively. Fifty-two patients (98.1%) had obstructive sleep apnea preoperatively with an average Apnea Hypopnea Index of 25.0 ± 10.6. Post-MDO, only 4 (7.5%) had obstructive sleep apnea and the average Apnea Hypopnea Index was 5.2 ± 0.6. No patients (0) required a tracheostomy for a 100% success rate. The tremendous success of the implementation of MDO by local surgeons in Vietnam after its introduction by visiting international surgeons illustrates a paradigm for capacity-enhancing global surgical endeavors. Mandibular distraction osteogenesis has replaced tongue lip adhesion as the surgical treatment of choice for PRS patients at VNCH. Surgical techniques can be transferred to operating environments with basic infrastructure through collaboration and resource optimization. These results demonstrate that global surgical engagement may be scalable and repeatable with direct benefits for patients in lower-middle-income countries.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 22

2025

Radiographic Evaluation of Impacted and Transmigrant Canines: Prevalence and Sex-Based Differences in an Orthodontic Cohort.

Dentistry journal
2025

[Short and long-term results of bone grafting of the maxillary alveolar process in patients with alveolar ridge cleft].

Stomatologiia
2025

Prenatal Ultrasonic Features of Median Cleft of the Lower Lip and Mandible With Ankyloglossia: A Rare Case Report and Literature Review.

Journal of clinical ultrasound : JCU
2025

Does Surgical Sequencing Influence the Accuracy of Maxillary Positioning in Bimaxillary Cleft Orthognathic Surgery?

Plastic and reconstructive surgery
2023

Management of a Rare Tessier 30 Median Mandibular Cleft Anomaly: A Comprehensive Review.

International journal of clinical pediatric dentistry
2024

Implementation of Mandibular Distraction Osteogenesis for Patients With Pierre Robin Sequence in a Developing Country Through International Collaboration: A Paradigm for Success.

The Journal of craniofacial surgery
2023

Tessier 30 Facial Cleft: A Rare Craniofacial Anomaly.

International journal of clinical pediatric dentistry
2023

Msx1 is essential for proper rostral tip formation of the mouse mandible.

Biochemical and biophysical research communications
2023

First-Trimester Evaluation of Cleft Lip and Palate by A Novel Two-Dimensional Sonographic Technique: A Prospective Study.

Current medical imaging
2022

Management of Tessier 30-Median Mandibular Cleft: 12-Year Follow-Up-A Case Report.

Journal of maxillofacial and oral surgery
2021

[Median mandibular cleft in adults: a case report and literature review].

The Pan African medical journal
2022

Craniofacial Growth Analysis of Individuals With and Without Cleft Lip and Palate in Colombia.

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

Clinical Correction of Complete Median Cleft of the Mandible and Lower Lip: A 17-Year Follow-Up of a Case Report With Literature Review.

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

Dental crown symmetry in unilateral cleft lip and palate patients: A three-dimensional analysis on digital dental models.

Orthodontics &amp; craniofacial research
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
2018

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

Plastic and reconstructive surgery. Global open
2019

Median Cleft of the Lower Lip and Mandible: Clinical Experience and Surgical Treatment.

The Journal of craniofacial surgery
2019

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2017

Tessier 30 Facial Cleft with Duplication of Tongue.

Journal of Indian Association of Pediatric Surgeons
2016

Frontal space distance in facial clefts and retrognathia at 11-13 weeks' gestation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2015

Tessier number 30 clefts with congenital heart defects.

Iranian Red Crescent medical journal
2015

Cranio-facial clefts in pre-hispanic America.

Clinical genetics

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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. Radiographic Evaluation of Impacted and Transmigrant Canines: Prevalence and Sex-Based Differences in an Orthodontic Cohort.
    Dentistry journal· 2025· PMID 41002659mais citado
  2. [Short and long-term results of bone grafting of the maxillary alveolar process in patients with alveolar ridge cleft].
    Stomatologiia· 2025· PMID 40445046mais citado
  3. Prenatal Ultrasonic Features of Median Cleft of the Lower Lip and Mandible With Ankyloglossia: A Rare Case Report and Literature Review.
    Journal of clinical ultrasound : JCU· 2025· PMID 40269644mais citado
  4. Does Surgical Sequencing Influence the Accuracy of Maxillary Positioning in Bimaxillary Cleft Orthognathic Surgery?
    Plastic and reconstructive surgery· 2025· PMID 39046832mais citado
  5. Implementation of Mandibular Distraction Osteogenesis for Patients With Pierre Robin Sequence in a Developing Country Through International Collaboration: A Paradigm for Success.
    The Journal of craniofacial surgery· 2024· PMID 38231188mais citado
  6. Mondo: Integrating Disease Terminology Across Communities.
    Genetics· 2025· PMID 41052288recente
  7. Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.
    Orphanet J Rare Dis· 2025· PMID 40819054recente
  8. A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
    Orphanet J Rare Dis· 2025· PMID 40751258recente
  9. Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.
    Orphanet J Rare Dis· 2025· PMID 40708026recente
  10. Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.
    Orphanet J Rare Dis· 2025· PMID 40420286recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2006(Orphanet)
  2. MONDO:0016062(MONDO)
  3. GARD:18756(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785907(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 mediana do lábio inferior
Compêndio · Raras BR

Fenda mediana do lábio inferior

ORPHA:2006 · MONDO:0016062
Prevalência
<1 / 1 000 000
Casos
70 casos conhecidos
Herança
Not applicable
CID-10
Q36.1 · Fenda labial mediana
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4518460
Wikidata
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