Conditions / Genetic
Ehlers-Danlos syndrome spondylodysplastic type 2
info · Genetic
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_mater
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
Signs and symptoms
- Short stature
- Large joint hypermobility
- Prominent forehead
- Kyphoscoliosis
- Joint hypermobility
- Joint contracture
- Platyspondyly
- Hyperplasia of the femoral trochanters
- Proptosis
- Beaking of vertebral bodies
Also known as: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; Ehlers-Danlos syndrome progeroid type