Microcephalic primordial dwarfism, Montreal type

Orpha code: 2617OMIM code: 210700

Definicja

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Bird-headed dwarfism, Montreal type
Kod ORPHA
2617
Kod OMIM
210700
Kod ICD10
Q87.1
Kod ICD11
-

No additional description.

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