Microcephalic primordial dwarfism, Montreal type

Orpha code: 2617OMIM code: 210700

Definition

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
Classification

Malformation syndrome

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

No additional description.

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