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Definition

A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.

Acronym

EDSSPD2

Synonyms

EDSP2
Ehlers-Danlos syndrome, progeroid type, 2

Keywords

Ehlers-Danlos syndrome

 
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