Синдром контрактур-крилоподібної шиї-мікрогнатії-гіпопластичних сосків
ORPHA:314002· ICD-10 Q87.8· Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- No data available
- Вік початку
- Infancy, Neonatal