Pierre Robin Syndrome

**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.

**Tree numbers:** - 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

**Synonyms:** - Glossoptosis, Micrognathia, and Cleft Palate - Pierre Robin Sequence - Pierre Robin's Sequence - Pierre-Robin Syndrome - Robin Sequence