Dysmorphism-pectus carinatum-joint laxity syndrome

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Synonyms: Guízar Vázquez-Sánchez-Manzano syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Dysmorphism-pectus carinatum-joint laxity syndrome?

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