Conditions / Genetic
Ehlers-Danlos syndrome arthrochalasia type 2
info ยท Genetic
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
Signs and symptoms
- Joint hypermobility
- Hip dislocation
- Hyperextensibility of the finger joints
- Scoliosis
- Fragile skin
- Generalized hypotonia
- Delayed gross motor development
- Joint subluxation
- Kyphosis
- Hallux valgus