Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Orpha code: 314002OMIM code:

Definition

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.

Disease data
Classification

Malformation syndrome

Synonyms
Dinno syndrome
Zespół Dinno
ORPHA code
314002
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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