Dysmorphism-pectus carinatum-joint laxity syndrome
ORPHA:2104· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterised by joint laxity, pectus carinatum and facial dysmorphism (including mild frontal bossing, lateral displacement of the inner canthi, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). There have been no further descriptions in the literature since 1980.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal