Conditions / Genetic
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
info · Genetic
A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
Signs and symptoms
- Delayed epiphyseal ossification
- Severe platyspondyly
- Squared iliac bones
- Postnatal growth retardation
- Narrow chest
- Short ribs
- Short long bone
- Flat acetabular roof
- Small for gestational age
- Wide distal femoral metaphysis
Also known as: Megarbane-Dagher-Melike type chondrodysplasia; SMDMDM