Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

Orpha code: 357175OMIM code: 615162

Definition

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.

Disease data
Classification

Malformation syndrome

ORPHA code
357175
OMIM code
615162
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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