Conditions / Genetic
spondyloepimetaphyseal dysplasia, Pakistani type
info · Genetic
A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Signs and symptoms
- Kyphoscoliosis
- Irregular vertebral endplates
- Lower limb undergrowth
- Brachydactyly
- Short stature
- Spondyloepimetaphyseal dysplasia
- Acne
- Premature pubarche
- Secondary amenorrhea
- Platyspondyly
Also known as: spondyloepimetaphyseal dysplasia Pakistani type