Pierre Robin syndrome-faciodigital anomaly syndrome

Orpha code: 2888OMIM code: 311895

Definicja

A rare orofacial clefting syndrome 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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Chitayat-Meunier-Hodgkinson syndrome
Sekwencja Pierre'a Robina - anomalia twarzowo-palcowa
Zespół Chitayata, Meuniera i Hodgkinsona
Pierre Robin sequence-faciodigital anomaly syndrome
Kod ORPHA
2888
Kod OMIM
311895
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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