Dysmorphism-pectus carinatum-joint laxity syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome
Definition
Dysmorphism-pectus carinatum-joint laxity syndrome is characterized 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.
Also known as dysmorphism-pectus carinatum-joint laxity syndrome, Guízar Vázquez-Sánchez-Manzano syndrome — per MONDO