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DeCS

Descriptor English:

Pierre Robin Syndrome

Descriptor Spanish:

Síndrome de Pierre Robin

Descriptor Portuguese:

Síndrome de Pierre Robin

Tree Number:

Definition English:

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.

Indexing Annotation English:

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

See Related English:

History Note English:

65(64)

Allowable Qualifiers English:

Record Number:

11288

Unique Identifier:

D010855

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