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Синдром дисморфізму-pectus carinatum-слабкості суглобів

ORPHA:2104· ICD-10 Q87.8· Dysmorphism-pectus carinatum-joint laxity syndrome

Визначення(English summary)

Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.

Поширеність
<1 / 1 000 000
Успадкування
Unknown
Вік початку
Infancy, Neonatal