dysmorphism-pectus carinatum-joint laxity syndrome
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Guizar Vasquez Sanchez Manzano syndrome
related
Guízar Vázquez-Sánchez-Manzano syndrome
exact
dysmorphism-pectus carinatum-joint laxity syndrome
exact