Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

Orpha code: 498485OMIM code: 608811

Definicja

A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
498485
Kod OMIM
608811
Kod ICD10
-
Kod ICD11
-

No additional description.

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