Dysmorphism-pectus carinatum-joint laxity syndrome
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 December 2023
Newly diagnosed with
Dysmorphism-pectus carinatum-joint laxity syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.