Pierre Robin Syndrome
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.
Year introduced: 1965(1964)
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Subheadings:
Tree Number(s): C05.500.460.606, C05.660.207.540.460.606, C07.320.440.606, C07.650.500.460.606, C16.131.621.207.540.460.606, C16.131.850.500.460.606
MeSH Unique ID: D010855
Entry Terms:
- Robin Syndrome, Pierre
- Syndrome, Pierre Robin
- Glossoptosis, Micrognathia, and Cleft Palate
- Pierre Robin Sequence
- Sequence, Pierre Robin
- Pierre Robin's Sequence
- Pierre Robins Sequence
- Sequence, Pierre Robin's
- Pierre-Robin Syndrome
- Syndrome, Pierre-Robin
- Robin Sequence
- Sequence, Robin
See Also: