Ehlers-Danlos syndrome arthrochalasia type 1

info · Genetic

An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.

Signs and symptoms

Delayed closure of the anterior fontanelle
Congenital knee dislocation
Contracture of the proximal interphalangeal joint of the 2nd finger
Hallux valgus
Bruising susceptibility
Soft, doughy skin
Pes planus
Hyperextensible skin
Joint hypermobility
Contracture of the proximal interphalangeal joint of the 3rd finger