Intellectual disability-facial dysmorphism-hand anomalies syndrome

Orpha code: 370010OMIM code:

Definition

Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.

Disease data
Classification

Malformation syndrome

ORPHA code
370010
OMIM code
-
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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