Intellectual disability-facial dysmorphism-hand anomalies syndrome

Orpha code: 370010OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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