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Stomatognathic Diseases > Jaw Diseases > Jaw Abnormalities > Pierre Robin Syndrome
Musculoskeletal Diseases > Jaw Diseases > Jaw Abnormalities > Pierre Robin Syndrome
Stomatognathic Diseases > Stomatognathic System Abnormalities > Maxillofacial Abnormalities > Jaw Abnormalities > Pierre Robin Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Stomatognathic System Abnormalities > Maxillofacial Abnormalities > Jaw Abnormalities > Pierre Robin Syndrome
... > Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Maxillofacial Abnormalities > Jaw Abnormalities > Pierre Robin Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Maxillofacial Abnormalities > Jaw Abnormalities > Pierre Robin Syndrome

Preferred term

Pierre Robin Syndrome  

Type

  • mesh:Descriptor

Definition

  • Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.

Broader concept

Related concepts

Entry terms

  • Glossoptosis, Micrognathia, and Cleft Palate
  • Pierre Robin Sequence
  • Pierre Robin's Sequence
  • Pierre-Robin Syndrome
  • Robin Sequence

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-K8F3PRW2-Q

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