Raras
Buscar doenças, sintomas, genes...
Fenda palatina submucosa
ORPHA:155878CID-10 · Q35.9CID-11 · LA4YDOENÇA RARA

Forma rara de fenda palatina caracterizada por diástase muscular congénita do palato mole ao longo da linha média com revestimento mucoso oral e nasal intacto. É diagnosticada pela tríade de uma úvula bífida, uma zona translúcida no palato mole e uma incisura óssea no bordo posterior do palato duro, podendo todas elas variar em gravidade. A insuficiência velofaríngea na ausência desta tríade é classificada como fenda palatina submucosa oculta. Os doentes podem ser assintomáticos ou apresentar problemas alimentares precocemente, com refluxo de fluidos pelo nariz, problemas de linguagem, otite média recorrente com efusão e perda de audição.

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Introdução

O que você precisa saber de cara

📋

Forma rara de fenda palatina caracterizada por diástase muscular congénita do palato mole ao longo da linha média com revestimento mucoso oral e nasal intacto. É feito pela tríade de uma úvula bífida, uma zona translúcida no palato mole e uma incisura óssea na borda posterior do palato duro, podendo todas elas variar em gravidade. A insuficiência velofaríngea na ausência desta tríade é contemporânea como fenda palatina submucosa oculta. Os pacientes podem ser assintomáticos ou apresentar problemas de alimentação precocemente, como refluxo de fluidos pelo nariz, problemas de linguagem, otite média recorrente com efusão e perda de audição.

Publicações científicas
52 artigos
Último publicado: 2026 Apr 3
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q35.9
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
3 sintomas
👂
Ouvidos
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

55%prev.
Fala hipernasal
Frequente (79-30%)
55%prev.
Regurgitação nasal
Frequente (79-30%)
55%prev.
Fenda submucosa do palato
Frequente (79-30%)
55%prev.
Úvula bífida
Frequente (79-30%)
17%prev.
Otite média recorrente
Ocasional (29-5%)
17%prev.
Deficiência auditiva
Ocasional (29-5%)
6sintomas
Frequente (4)
Ocasional (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 características clínicas mais associadas, ordenadas por frequência.

Fala hipernasalHypernasal speech
Frequente (79-30%)55%
Regurgitação nasalNasal regurgitation
Frequente (79-30%)55%
Fenda submucosa do palatoSubmucous cleft palate
Frequente (79-30%)55%
Úvula bífidaBifid uvula
Frequente (79-30%)55%
Otite média recorrenteRecurrent otitis media
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico52PubMed
Últimos 10 anos27publicações
Pico20215 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano 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

2 genes identificados com associação a esta condição.

UBBPolyubiquitin-BCandidate gene tested inTolerante
FUNÇÃO

Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiqui

LOCALIZAÇÃO

CytoplasmNucleusMitochondrion outer membrane

VIAS BIOLÓGICAS (1)
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
592.0 TPM
Linfócitos
427.6 TPM
Sangue
426.1 TPM
Brain Spinal cord cervical c-1
409.3 TPM
Pituitária
406.5 TPM
OUTRAS DOENÇAS (4)
submucosal cleft palatecleft soft palatebifid uvulacleft hard palate
HGNC:12463UniProt:P0CG47
GRHL3Grainyhead-like protein 3 homologMajor susceptibility factor inAltamente restrito
FUNÇÃO

Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in e

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Van der Woude syndrome 2

An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

EXPRESSÃO TECIDUAL(Tecido-específico)
Esôfago - Mucosa
141.8 TPM
Vagina
78.8 TPM
Skin Not Sun Exposed Suprapubic
64.5 TPM
Skin Sun Exposed Lower leg
64.2 TPM
Testículo
3.9 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (6)
van der Woude syndrome 2submucosal cleft palatecleft soft palatebifid uvula
HGNC:25839UniProt:Q8TE85

Variantes genéticas (ClinVar)

68 variantes patogênicas registradas no ClinVar.

🧬 GRHL3: NM_198173.3(GRHL3):c.1555G>A (p.Val519Met) ()
🧬 GRHL3: NM_198173.3(GRHL3):c.612+5G>C ()
🧬 GRHL3: NM_198173.3(GRHL3):c.1047+1G>A ()
🧬 GRHL3: NM_198173.3(GRHL3):c.917G>A (p.Arg306Gln) ()
🧬 GRHL3: NM_198173.3(GRHL3):c.173C>T (p.Ala58Val) ()
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 palatina submucosa

🗺️

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
25 papers (10 anos)
#1

Addressing Competence and Educational Gaps Among Speech and Language Pathologists in Cleft Palate Care: A Cross-Sectional Study in Flanders.

International journal of language & communication disorders2026

The field of speech and language pathology (SLP) expanded to a wide range of specialities, leading to a global trend to decrease the time spent on specific courses on children with cleft palate, with or without cleft lip (CP±L) in SLP education programmes. The lack of CP±L courses has resulted in a global shortage of well-trained SLPs to deliver high-quality services to this population. Therefore, alternative training formats are needed. This study aimed to assess the training needs of Flemish speech and language pathologists (SLPs) working with children with CP±L by examining: (1) their current employment situation, experience and perceived competence regarding CP±L; (2) their preferences for the content, sources and organisation of continuing education on CP±L and (3) potential incentives and barriers to attend continuing education on CP±L. A self-constructed online survey in QualtricsXM, based on existing literature, was utilised. The study employed a descriptive, quantitative approach, supplemented with open-ended questions to enrich and deepen the quantitative data. The 158 respondents had a mean work experience of 10 years, a median of 7 years and a mode (most frequently occurring value) of 5 years. Of these 158 respondents, 132 (83.5%) were young SLPs with professional experience ranging from 0 to 15 years. Of these, 53.8% (85/158) had previously treated one or more children with CP±L, of whom 71 (83.5%) had a caseload of 0-3 children within the last 5 years. The mean caseload for the 85 SLPs with experience was 4.74 cases, with a median of one child and a mode of one. Of the 85 respondents with experience, 9.4% (8/85) felt highly competent in treating feeding problems, while 58.8% (50/85) felt highly capable in treating speech and language problems. However, 60% (95/158) of the SLPs would refer children with CP±L, especially when having feeding problems or severe speech and language problems, such as compensatory articulation disorders (CADs) or submucosal cleft, as they feel a lack of competence. Two-thirds (63.6%, 96/151) of the respondents who answered this question expressed a desire for continuing education in the assessment and treatment of children with CP±L. Although many Flemish SLPs perceived themselves as highly competent in treating speech and language problems in children with CP±L, they reported a lack of competence in treating complex or severe cases. They expressed a strong demand for specific, highly practical continuing education on CP±L, taught by experts in the field and with personal guidance. Based on the existing literature, our experience with CP±L and the results of this survey, we developed a continuing education programme on CP±L as an alternative educational format, tailored to the needs of Flemish community SLPs. What is already known on the subject Treating children with CP±L is complex and requires high-quality care from specialised SLPs with sufficient clinical experience. However, there is a global trend to reduce dedicated coursework on CP±L in SLP training programmes. Instead, the subject is often briefly covered in general courses or offered as an elective. As a result, there is a shortage of well-trained SLPs, creating an urgent need for alternative training formats. What this paper adds to the existing knowledge This study reveals that Flemish Community SLPs feel insufficiently trained to assess and treat children with CP±L who exhibit complex or severe problems, such as feeding problems, compensatory articulation disorders (CAD), velopharyngeal insufficiency or submucosal cleft palate. They have a strong need for theoretical knowledge and practical continuing education, preferably provided by experts in CP±L. They want a 1-day or multi-day training course that utilises extensive video footage, personal coaching, opportunities to observe experts and even an internship. Additionally, they want an online platform to collect and disseminate all knowledge and expertise. What are the potential or actual clinical implications of this work? Given the global decline in specific CP±L courses in SLP programmes, SLPs feel inadequately prepared to assess and treat these children correctly. This increases the risk that no results will be achieved or that undesirable results will occur. To prevent this, alternative training formats are needed. Based on this needs analysis, a training programme was developed for community SLPs, tailored to their needs to enable them to provide high-quality speech therapy services.

#2

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

BMJ case reports2025 Apr 08

Microspherophakia is a rare congenital lens abnormality characterised by increased anterior-posterior thickness and reduced equatorial diameter, giving the lens a spherical shape. Iris coloboma, typically involving the inferonasal iris, results from incomplete fetal fissure closure. To our knowledge, this is the first reported case of microspherophakia with bilateral atypical (temporal) iris coloboma. An early adolescent patient underwent a syndromic evaluation for multiple congenital anomalies. Ophthalmological examination revealed bilateral temporal notches of the pupillary rim with intact collarettes, suggesting coloboma and strongly pigmented lens zonules with phacodonesis. Additional findings included inguinal hernia, submucosal cleft palate, mitral valve prolapse, microcephaly and high myopia. Management focused on glasses and periodic intraocular pressure monitoring due to preserved visual acuity. This case underscores the variable presentation of probable connective tissue disorders, with atypical ocular features like microspherophakia, temporal iris coloboma and lens subluxation.

#3

Surgery for Velopharyngeal Dysfunction.

Facial plastic surgery clinics of North America2025 Nov

The velopharynx is comprised of complex musculature that works together to achieve closure of the velopharyngeal port during deglutition and speech. Failure of this mechanism results in velopharyngeal dysfunction, manifesting as nasal regurgitation and hypernasal speech. A thorough evaluation with a multidisciplinary team of otolaryngology and/or a surgeon trained in cleft/craniofacial surgery and speech languagy pathology can identify the underlying cause and relevant anatomy, which should be incorporated into decisions regarding surgical techniques. The most common surgical approaches for VPI are pharyngeal flap, sphincter pharyngoplasty, and Furlow palatoplasty, but many alternative techniques can be utilized depending on patient factors and new surgical concepts.

#4

Primary Cleft Palate Management and Repair.

Facial plastic surgery clinics of North America2025 Nov

There are many techniques from which to choose in cleft palate repair. The decision of which to use varies from surgeon to surgeon and may be tailored based on the type of cleft palate and surgeon training or preference. The goal of cleft palate repair is to improve speech resonance, while minimizing complications. Repair techniques are ever evolving to reduce complications and improve success rates as measured by fistula formation and velopharyngeal insufficiency.

#5

[The effect of the presence of a submucosal cleft palate on the middle ear and speech].

Vestnik otorinolaringologii2025

Hidden or submucosal cleft palate (SCP) is a rare form of isolated cleft that is characterized by rhinolalia in the presence of an apparently intact palate. To analyze the age of detection of SCP in children and evaluate the impact of its presence on the middle ear and speech development of patients. 17 patients with SCP were examined and treated in the departments of otorhinolaryngology and maxillofacial surgery of the Children's Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan. The duration of observation of patients ranged from 1 to 4 years. The median (Me) age of diagnosis of SCP was 7.18±3.83 years (95% CI 5.21-9.14), of which in 10 patients (58.8%) SCP was first suspected by an otorhinolaryngologist. When analyzing the age of detection of SCP depending on the detection of otitis media with effusion (OME) and epitympanitis, we established statistically significant differences (p=0.007; p=0.043, respectively). When assessing the dependence of the probability of OME on the age of detection of SCP using ROC analysis, an ROC curve was obtained that characterizes the dependence of the probability of OME on the age of detection of SCP. The resulting model was statistically significant for OME (p=0.011). When analyzing the comparison of the age of detection of SCP depending on the presence of speech delay, statistically significant differences were established (p=0.029). The analyzed data from patients with SCP indicate serious changes in the middle ear: from OME to the presence of cholesteatoma. The presence of SCP affects not only the clarity of spoken speech, but also contributes to its delay. The data obtained demonstrate a direct relationship between the severity of manifestations in the middle ear and the age at which the diagnosis of SCP was made by an otorhinolaryngologist. Скрытая, или подслизистая, расщелина нёба (СкрРН) представляет собой редкую форму изолированных расщелин, которая характеризуется ринолалией при внешне неповрежденном нёбе. Проанализировать возраст выявления СкрРН у детей и оценить влияние ее наличия на среднее ухо и речевое развитие пациентов. Были обследованы 17 пациентов со СкрРН, проходивших обследование и лечение в отделениях оториноларингологии и челюстно-лицевой хирургии ГАУЗ «Детская республиканская клиническая больница Минздрава Республики Татарстан». Длительность наблюдений составила от 1 года до 4 лет. Медиана (Me) возраста установления диагноза СкрРН составила 7,18±3,83 (95% ДИ 5,21—9,14) года, у 10 (58,8%) пациентов СкрРН впервые заподозрена врачом-оториноларингологом. При анализе возраста обнаружения СкрРН в зависимости от выявления экссудативного среднего отита (ЭСО) и эпитимпанита нами установлены статистически значимые различия (p=0,007; p=0,043 соответственно). При оценке зависимости вероятности ЭСО от возраста выявления СкрРН с помощью ROC-анализа получена ROC-кривая, характеризующая зависимость вероятности ЭСО от возраста обнаружения СкрРН. Полученная модель статистически значима для ЭСО (p=0,011). При анализе сопоставления возраста обнаружения СкрРН в зависимости от наличия задержки речи установлены статистически значимые различия (p=0,029). Проанализированные данные пациентов со скрытой расщелиной нёба указывают на серьезные изменения в среднем ухе: от экссудативного среднего отита до холестеатомы. Наличие скрытой расщелины нёба не только влияет на четкость произносимой речи, но и способствует ее задержке. Полученные данные демонстрируют прямую зависимость тяжести проявлений в среднем ухе от возраста установления диагноза скрытой расщелины нёба врачом-оториноларингологом.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC13 artigos no totalmostrando 26

2026

Addressing Competence and Educational Gaps Among Speech and Language Pathologists in Cleft Palate Care: A Cross-Sectional Study in Flanders.

International journal of language & communication disorders
2025

Surgery for Velopharyngeal Dysfunction.

Facial plastic surgery clinics of North America
2025

Primary Cleft Palate Management and Repair.

Facial plastic surgery clinics of North America
2025

[The effect of the presence of a submucosal cleft palate on the middle ear and speech].

Vestnik otorinolaringologii
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

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

BMJ case reports
2024

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction.

American journal of otolaryngology
2023

Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review.

Pediatric endocrinology, diabetes, and metabolism
2023

Impact of list-mode reconstruction and image-space point spread function correction on PET image contrast and quantitative value using SiPM-based PET/CT system.

Radiological physics and technology
2023

Effect of cerebrospinal fluid area mask correction on 123I-FP-CIT SPECT images in idiopathic normal pressure hydrocephalus.

BMC medical imaging
2023

Long-term nitrogen and phosphorus removal, shifts of functional bacteria and fate of resistance genes in bioretention systems under sulfamethoxazole stress.

Journal of environmental sciences (China)
2022

High incidence of cleft palate and vomer deformities in patients with Eustachian tube dysfunction.

Scientific reports
2022

Paper-thin roof: submucosal cleft palate with rhinolalia aperta.

Postgraduate medical journal
2021

Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.

Journal of reproduction & infertility
2021

Evaluation of fistula rates in three cleft palate techniques without relaxing incisions.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2021

Incidence of Symptomatic Submucous Cleft Palate in the Netherlands: A Retrospective Cohort Study Over a Period of 22 Years.

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

Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures.

International journal of pediatric otorhinolaryngology
2021

Oronasal Fistula Risk After Palate Repair.

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

Surgical management in a severe OSA patient diagnosed with Stickler syndrome.

Auris, nasus, larynx
2019

Partial Adenoidectomy in Patients With Palatal Abnormalities.

The Journal of craniofacial surgery
2019

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

European journal of human genetics : EJHG
2018

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

Brazilian journal of otorhinolaryngology
2017

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

PLoS genetics
2016

Perforation With Submucosal Cleft Palate in a Previously Undiagnosed Adult Patient.

The Journal of craniofacial surgery
2016

Congenital Fistula of the Hard Palate With Submucosal Cleft Palate.

The Journal of craniofacial surgery
2015

Molecular basis of cleft palates in mice.

World journal of biological chemistry

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

Ainda não existe comunidade no Raras para Fenda palatina submucosa

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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. Addressing Competence and Educational Gaps Among Speech and Language Pathologists in Cleft Palate Care: A Cross-Sectional Study in Flanders.
    International journal of language & communication disorders· 2026· PMID 41661022mais citado
  2. Microspherophakia with an atypical temporal iris coloboma in a young female.
    BMJ case reports· 2025· PMID 40199594mais citado
  3. Surgery for Velopharyngeal Dysfunction.
    Facial plastic surgery clinics of North America· 2025· PMID 41101811mais citado
  4. Primary Cleft Palate Management and Repair.
    Facial plastic surgery clinics of North America· 2025· PMID 41101810mais citado
  5. [The effect of the presence of a submucosal cleft palate on the middle ear and speech].
    Vestnik otorinolaringologii· 2025· PMID 40899885mais citado
  6. Acute airway obstruction in a paediatric patient with Wolf-Hirschhorn syndrome requiring emergency tracheostomy.
    BMJ Case Rep· 2026· PMID 41932714recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:155878(Orphanet)
  2. MONDO:0015479(MONDO)
  3. GARD:19976(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55785498(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 palatina submucosa
Compêndio · Raras BR

Fenda palatina submucosa

ORPHA:155878 · MONDO:0015479
CID-10
Q35.9 · Fenda palatina não especificada
CID-11
MedGen
UMLS
C4551487
EuropePMC
Wikidata
Papers 10a
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