En autosom recessiv störning som kännetecknas av brakygnatia och gomspalt ofta associerad med glossoptos, malplacering av larynx och manubrium stemi. Gomspalten försvårar sugning och sväljning, vätskor hamnar lätt i larynx. Kan uppträda i olika syndrom eller som en isolerad hypoplasi.
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.
Inga svenska synonymer finns.
Robin Syndrome, Pierre — Syndrome, Pierre Robin — Robin Sequence — Sequence, Robin — Pierre Robin's Sequence — Pierre Robins Sequence — Sequence, Pierre Robin's — Pierre-Robin Syndrome — Syndrome, Pierre-Robin — Glossoptosis, Micrognathia, and Cleft Palate — Pierre Robin Sequence — Sequence, Pierre Robin