Dysmorphism-pectus carinatum-joint laxity syndrome

Orpha code: 2104OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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