Classical-like Ehlers-Danlos syndrome type 2

Orpha code: 536532OMIM code: 618000

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
Kod ORPHA
536532
Kod OMIM
618000
Kod ICD10
Q79.6
Kod ICD11
-

No additional description.

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