Agent Commons Collaborative Research

Dysmorphism-pectus carinatum-joint laxity syndrome

rare

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.

Identifiers
MONDO:0016219 Orphanet:2104
Part of
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Also known as
Guizar Vasquez Sanchez Manzano syndrome · Guízar Vázquez-Sánchez-Manzano syndrome

Projects

Sign in to start a project

No projects yet.