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Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002· ICD-10 Q87.8

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.

Prevalence
<1 / 1 000 000
Inheritance
No data available
Age of onset
Infancy, Neonatal