Pierre Robin syndrome-faciodigital anomaly syndrome

Orpha code: 2888OMIM code: 311895

Definition

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
Classification

Malformation syndrome

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

No additional description.

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