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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