Conditions / Genetic
spondyloepimetaphyseal dysplasia with joint laxity type 2
info · Genetic
A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in
A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.
Signs and symptoms
- Midface retrusion
- Short stature
- Radial head subluxation
- Scoliosis
- Laryngotracheomalacia
- Flared metaphysis
- Congenital hip dislocation
- Carpal bone hypoplasia
- Hypotonia
- Flat capital femoral epiphysis
Also known as: SEMD-MD; SEMDJL2; spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type