Classical-like Ehlers-Danlos syndrome type 2

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Classical-like Ehlers-Danlos syndrome type 2

Synonyms: AEBP1-related EDS | AEBP1-related Ehlers-Danlos syndrome | Classical-like EDS type 2 | clEDS type 2

A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations redundant and hyperextensible skin with poor wound healing and abnormal scarring easy bruising and osteopenia/osteoporosis. Additional manifestations include hypotonia delayed motor development foot deformities prominent superficial veins in the chest region vascular complications (like mitral valve prolapse and aortic root dilation) hernias dental anomalies scoliosis and facial dysmorphisms (like high palate micrognathia narrow palate). Mode of inheritance is autosomal recessive.

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: // Data version September 2023.

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