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Concept information

Preferred term

Pierre Robin Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Note

  • named for French dentist Pierre Robin: Robin is his surname; note: no hyphen

Scope note

  • 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.

History note

  • 65(64)

In other languages

  • Finnish

  • Pierre Robin
  • Pierre Robin -oireyhtymä
  • Pierre Robin -syndrooma
  • Pierre Robinin assosiaatio
  • Pierre Robinin syndrooma
  • Robin
  • Robinin assosiaatio
  • Robinin oireyhtymä
  • Robinin syndrooma
  • syndroma Pierre Robin
  • Swedish

URI

http://www.yso.fi/onto/mesh/D010855

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