/Pierre Robin syndrome-faciodigital anomaly syndrome

Pierre Robin syndrome-faciodigital anomaly syndrome

Rare Disease

MONDO:0010710

Also Known As

Chitayat-Meunier-Hodgkinson syndromePierre Robin sequence-faciodigital anomaly syndromeChitayat Meunier Hodgkinson syndromePierre Robin sequence with facial and digital anomaliesPierre Robin syndrome, faciodigital anomalyRobin sequence with facial and digital anomalies

Definition

This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.