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Síndrome Pierre-Robin isolado
ORPHA:718CID-10 · Q87.0CID-11 · LA56OMIM 261800DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
lungInício neonatalHerança AD/Complex/Unknown
Também conhecida comoSequência de Pierre-Robin isoladaPRSPRS
Sinônimos clínicos: Sequência de Pierre-Robin isolada · PRS

A síndrome de Pierre-Robin (ou sequência de Pierre-Robin) é caracterizada por uma tríade de anomalias morfológicas orofaciais que consiste em retrognatismo, glossoptose e fenda velopalatal mediana posterior.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A Síndrome Pierre-Robin isolado é uma malformação congênita rara caracterizada pela combinação de mandíbula recuada, língua projetada para trás e abertura no céu da boca. Nos primeiros dias de vida, a família e os médicos costumam notar desconforto para respirar, ruídos respiratórios e dificuldade para sugar o leite materno ou a mamadeira. O cuidado principal envolve a garantia de vias aéreas livres, técnicas de nutrição e correções cirúrgicas quando necessárias. No SUS, não existem medicamentos dispensados para a condição, mas a rede pública assegura exames genéticos e procedimentos de atendimento em reabilitação para doenças raras.

📋
Informacoes curadas por IA — podem conter imprecisoes

A síndrome de Pierre-Robin (ou sequência de Pierre-Robin) é caracterizada por uma tríade de anomalias morfológicas orofaciais que consiste em retrognatismo, glossoptose e fenda velopalatal mediana posterior.

Pesquisas ativas
1 ensaio
16 total registrados no ClinicalTrials.gov
Publicações científicas
30 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
United Kingdom
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
5 procedimentos SIGTAPCID-10: Q87.0
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (5)
•
Cariótipo — bandas G, Q ou R
•
Pesquisa de microdeleções/microduplicações por FISH
•
Sequenciamento completo do exoma (WES)
•
Dosagem de alfa-fetoproteína
•
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

🫁
Pulmão
5 sintomas
📏
Crescimento
2 sintomas
🫃
Digestivo
2 sintomas
😀
Face
2 sintomas
👁️
Olhos
1 sintomas
❤️
Coração
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Glossoptose
Muito frequente (99-80%)
90%prev.
Fissura palatina
Muito frequente (99-80%)
90%prev.
Micrognatia
Muito frequente (99-80%)
55%prev.
Desconforto respiratório neonatal
Frequente (79-30%)
55%prev.
Déficit de crescimento
Frequente (79-30%)
55%prev.
Obstrução das vias aéreas superiores
Frequente (79-30%)
23sintomas
Muito frequente (3)
Frequente (6)
Ocasional (12)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.

GlossoptoseGlossoptosis
Muito frequente (99-80%)90%
Fissura palatinaCleft palate
Muito frequente (99-80%)90%
MicrognatiaMicrognathia
Muito frequente (99-80%)90%
Desconforto respiratório neonatalNeonatal respiratory distress
Frequente (79-30%)55%
Déficit de crescimentoFailure to thrive
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico30PubMed
Últimos 10 anos7publicações
Pico20252 papers
Linha do tempo
2026Hoje · 2026🧪 2011Primeiro ensaio clínico
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: Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown.

Curadoria gene-doença

fontes oficiais
SOX9
SOX9Transcription factor SOX-9Disease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (7)
Deactivation of the beta-catenin transactivating complexTranscriptional regulation by RUNX2Transcriptional regulation of testis differentiationTranscriptional and post-translational regulation of MITF-M expression and activityDevelopmental Lineage of Multipotent Pancreatic Progenitor Cells
MECANISMO DE DOENÇA

Campomelic dysplasia

A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula salivar
110.7 TPM
Testículo
66.8 TPM
Brain Caudate basal ganglia
47.5 TPM
Cérebro - Amígdala
42.6 TPM
Córtex cerebral
42.6 TPM
OUTRAS DOENÇAS (8)
campomelic dysplasia46,XX sex reversal 246,XY sex reversal 1046,XY complete gonadal dysgenesis
HGNC:11204UniProt:P48436

Variantes genéticas (ClinVar)

185 variantes patogênicas registradas no ClinVar.

🧬 SOX9: NM_000346.4(SOX9):c.1224_1251dup (p.Ile418fs) ()
🧬 SOX9: NM_000346.4(SOX9):c.674dup (p.Glu226fs) ()
🧬 SOX9: NM_000346.4(SOX9):c.432-2A>G ()
🧬 SOX9: NM_000346.4(SOX9):c.1121del (p.Pro374fs) ()
🧬 SOX9: NM_000346.4(SOX9):c.*1990G>T ()
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

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico16
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 16 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome Pierre-Robin isolado

🗺️

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

Onde estão os ensaios

Com ensaio aberto em 1 país. O ponto verde marca onde há vaga agora.

Pesquisa e ensaios clínicos

16 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
NCT07257276 · 3D-CT-Based Prediction of Difficult Laryngoscopy in Infants …Ativo
🇨🇳 China
NCT07604818 · Comparison of Sucking in Premature Infants and Infants With …Concluído
🇫🇷 França
NCT06303973 · Effect of Oral Enteral Nutrition in Pierre Robin SyndromeConcluído
NA🇹🇼 Taiwan
NCT06767995 · Comparison of Two Airway Devices in Paediatric Patients With…Concluído
NATurkey (Türkiye)
NCT04422067 · Usefulness of Cephalometry in the Second and Third Trimester…Concluído
🇫🇷 França
NCT03423017 · Brainstem Dysfunction Involvement in the Pathogenesis of Pie…Concluído
NA🇫🇷 França
NCT03194178 · Impact of Phonatory and Facial Morphology Disorders, on the …Concluído
🇫🇷 França
NCT02266043 · Early Treatment Outcomes in Pierre-Robin-Like PhenotypeConcluído
🇩🇪 Alemanha
NCT01664234 · Oxygen Insuflation and ArterialDesaturation During Tracheal …Concluído
NA🇦🇹 Áustria
NCT01690078 · Functional Modeling of the Pediatric AirwayConcluído
🇺🇸 Estados Unidos
NCT02658318 · Postoperative Complications After Cleft Palate Closure in Pa…Concluído
🇧🇪 Bélgica
NCT06328959 · Effect of Oral Feeding in Infants With Pierre Robin SyndromeUNKNOWN
NA
NCT06267950 · Effect of Oral Feeding in Infants With Pierre Robin SyndromeUNKNOWN
NA🇹🇼 Taiwan
NCT06178562 · Intermittent Oro-Esophageal Tube Feeding vs. Nasogastric Tub…Encerrado
NA🇨🇳 China
NCT02364843 · A Physiological Study to Determine the Enteral Threonine Req…Encerrado
NA🇨🇦 Canadá
NCT02432638 · Pierre Robin Sequence Outcome Assessment Multi Institutional…Cancelado
🇺🇸 Estados Unidos
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

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

Outcome of orthodontic airway plate in improving airway among children with Pierre Robin Sequence: a systematic review.

The Journal of laryngology and otology2025 Dec 11

Pierre Robin Sequence is characterised by a small lower jaw, tongue displacement and, often, a U-shaped cleft palate, leading to breathing and feeding problems. Orthodontic airway plates have been developed as a non-invasive treatment option. A systematic review was conducted to evaluate the outcomes of orthodontic airway plates in children with Pierre Robin Sequence. Databases were searched for studies published up to December 2024, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Ten clinical studies with a total of 598 patients were included, among which 483 had isolated Pierre Robin Sequence, and 115 had syndromic Pierre Robin Sequence. Orthodontic airway plates improved airway obstruction and helped avoid tracheostomy in most patients. A small proportion of syndromic cases still required surgery. Feeding outcomes improved, with fewer children needing tube feeding. Speech development was good, though hypernasality persisted in some. Orthodontic airway plates are a minimally invasive yet effective way to manage airway complications in Pierre Robin Sequence patients.

#2

Examining Milk-Thickening Practices for Infants With Cleft Palate: A Scoping Review.

American journal of speech-language pathology2025 Nov 06

A common intervention to address aspiration and reflux in infants is thickening milk. However, thickening milk may further complicate feeding management for infants with cleft palate using adaptive feeding methods. The purpose of this scoping review was to identify and describe the types of milk thickener used for infants with cleft palate (with or without cleft lip) and the feeding modalities through which thickened milk is administered. A comprehensive scoping review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines. Five databases were searched: PubMed, Scopus, CINAHL, Google Scholar, and EBSCO Open Dissertations, in addition to citation searching. Records were limited to English-language publications with no date restrictions. Both peer-reviewed and gray-literature sources were included. After removing 868 duplicates, 2,282 records were screened by title and abstract. Sixty-four full-text articles were assessed for eligibility. One study met the inclusion criteria. Milk thickening was used as an intervention for infants with isolated Pierre Robin sequence and cleft palate. The thickener used was a modified corn-based flour at approximately 3% concentration to achieve a thicker liquid consistency. The thickened milk was offered via a bottle with latex nipples of varying hole sizes (original, intermediate, and 1-mm) depending on the infant's needs. Despite only one study meeting the inclusion criteria by specifying thickener type and/or feeding modality, 11 tutorial and seminar articles that discussed milk thickening as an intervention strategy in this population were identified. However, these articles lacked any information on the type of thickener and feeding modality, and none implemented the intervention with infants. Although milk thickening is described as a strategy in several tutorial and seminar articles, there is a paucity of empirical evidence to support milk thickening as a feeding intervention strategy for infants using cleft-adapted feeding methods.

#3

Effects of Mandibular Distraction Osteogenesis on Three-Dimensional Upper Airway Anatomy in Newborns Affected by Isolated Pierre Robin Sequence.

The Journal of craniofacial surgery2021 Jun

Effective airway management is critical to Pierre Robin Sequence treatment. The goal of this study is to assess the three-dimensional changes in airway size and shape in 117 newborns with isolated Pierre Robin sequence who underwent mandibular distraction osteogenesis. During the study period (11/29/2016 to 11/26/2019), 117 newborns affected by isolated Pierre Robin sequence met the inclusion criteria for the present study. All 117 included patients underwent linear distraction. Demographic variables were recorded and analyzed. Cone-beam computed tomography were performed before and after mandibular distraction osteogenesis. A systemic quantitative three-dimensional analysis of size and shape of upper airway was performed. The mean age was 71 day (range 12 to 213). The mean weight was 3.9 kg (range 2.3-6.8). A total of 53 patients are female and 64 are male. When the distraction device was removed, the upper and lower jaws were symmetrically aligned. Pre- and post-distraction comparison clearly showed osteogenesis. For the size of the upper airway, airway volume, anteroposterior dimension of the retroglossal airway, lateral dimension of retroglossal airway, minimum retropalatal area, minimum retroglossal area, average cross-sectional area and minimum cross-sectional area increased significantly after mandibular distraction osteogenesis (P < 0.001). However, the airway length did not change significantly (P > 0.05). For the shape of the upper airway, the lateral/anteroposterior ratio in the retroglossal region and the ratio of the retropalatal airway diameter to the retroglossal airway diameter significantly decreased after mandibular distraction osteogenesis (P < 0.001). The airway uniformity significantly increased after mandibular distraction osteogenesis (P < 0.001). Mandibular distraction osteogenesis for isolated Pierre Robin sequence improved size and shape of the upper airway, further confirming mandibular osteogenesis distraction as an effective surgical modality to address the airway obstruction in newborns affected by isolated Pierre Robin sequence. Cone-beam computed tomography scanning and analysis can serve as a safe and effective examination modality for upper airway applications of PRS newborns.

#4

A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons2020 May

There is a lack of uniformity in the diagnostic criteria and system for the morphologic classification of micrognathia in infants with isolated Pierre Robin sequence (IPRS). Therefore, the aim of this study was to create a morphologic classification system for IPRS-affected mandibles that may guide surgical management and osteotomy design. We designed and implemented a retrospective cross-sectional study. The study sample included infants with IPRS. The predictor variables included shape variables of the IPRS-affected mandibles. The outcome of interest was morphologic differences among the IPRS-affected mandibles in the infancy stage. The original coordinate data of the mandibular images were analyzed by a generalized Procrustes analysis and 2-block partial least squares analysis to identify the focal and nonfocal areas in the IPRS-affected mandibles. The original feature points were modified according to the results of 2-block partial least squares analysis. The modified feature points were further analyzed by principal component analysis, K-means cluster analysis, and canonical variate analysis to obtain a morphologic classification of the IPRS-affected mandibles. One hundred fifty infants with IPRS were enrolled in this study. Principal component analysis showed that the variations among IPRS-affected mandibles were mostly in terms of the shapes of the mandibular ramus, mandibular body, and angle of the mandible. On the basis of the results of K-means cluster analysis and canonical variate analysis, the mandibles in group A3 showed characteristics such as a simply shorter mandibular body. Group B3 was adjusted to show characteristics such as a shorter mandibular body with a more obtuse mandibular angle, whereas group C3 showed characteristics such as a shorter mandibular body with a shorter mandibular ramus. Our study confirmed the hypothesis that there are quantifiable morphologic differences among the IPRS-affected mandibles, and it provided a morphologic classification of the IPRS-affected mandibles that will help to promote the clinical diagnosis and treatment.

#5

Analysis of Arch Widths in Patients With Isolated Pierre Robin Sequence.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2018 Jan

To compare arch widths of patients with isolated Robin sequence (IRS) operated using modified von Langenbeck technique and modified Furlow double-opposing z-plasty. Retrospective, transversal study. Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. Three groups of patients were analyzed. Group VL comprised 30 patients with IRS operated by von Langenbeck technique (mean age of 8.1 years); group FL included 30 patients with IRS operated by Furlow technique (7.6 years); and the control group included 30 noncleft patients with class I occlusion (7.4 years). The palate repair was performed between 1.0 and 1.7 years of age in both study groups. Transversal measurements of maxillary and mandibular arches were performed digitally on 3D digital models. The intergroup comparison was performed using analysis of variance and Tukey test. An independent t test was used to compare the complete and incomplete types of cleft in both study groups. The level of significance was 5%. No statistically significant difference was found between the VL and FL groups for maxillary and mandibular arches. However, both groups showed decreased transversal dimensions compared with the control group (P < .01) for both dental arches. No differences for arch widths were observed for complete or incomplete palatal clefts. No influence of palate repair techniques was observed in the transversal arch widths in patients with IRS. Children with IRS operated for palate repair showed constriction of the maxillary and mandibular dental arches compared with noncleft children regardless the palatal cleft extension.

Publicações recentes

Ver todas no PubMed

Associações

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Síndrome Pierre-Robin isolado e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A condição é descrita pela associação morfológica de retrognatismo ou micrognatia, glossoptose e fenda velopalatal mediana posterior. Esse arranjo de anomalias frequentemente acarreta obstrução respiratória e dificuldades alimentares logo no início da vida.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

5 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence.
    Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons2020PMID 32032530
  2. Analysis of Arch Widths in Patients With Isolated Pierre Robin Sequence.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2018PMID 34162052
  3. ORPHA:718
    Orphanet
  4. GARD:4347
    GARD (NIH)
  5. Q1756040
    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.

Citar este verbete

Raras. (s.d.). Síndrome Pierre-Robin isolado. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-pierre-robin-isolado

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Pierre-Robin isolado
Compêndio · Raras BR

Síndrome Pierre-Robin isolado

ORPHA:718 · MONDO:0009869
🇧🇷 Brasil SUS
SIGTAP
5 procedimentos
Geral
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
CID-11
Ensaios
1 ativos
Início
Antenatal, Neonatal
Prevalência
0.0 (United Kingdom)
MedGen
UMLS
C0031900
EuropePMC
Wikidata
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Genética mendeliana
fonte: OMIM
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara