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