Conditions / Genetic
anauxetic dysplasia 3
info · Genetic
A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.
Signs and symptoms
- Severe short stature
- Small nail
- Brachydactyly
- Short metacarpal
- Trident hand
- Genu valgum
- Retrognathia
- Broad middle phalanx of finger
- Cutis laxa
- Thoracolumbar kyphoscoliosis