Dysmorphism-pectus carinatum-joint laxity syndrome

Orpha code: 2104OMIM code:

Definicja

Dysmorphism-pectus carinatum-joint laxity syndrome is characterised 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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Guízar Vázquez-Sánchez-Manzano syndrome
Zespół Guizar Vazqueza, Sancheza i Manzano
Kod ORPHA
2104
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl