spondylometaphyseal dysplasia Algerian type

A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

Signs and symptoms

• Kyphoscoliosis
• Severe short stature
• Short long bone
• Carpal bone hypoplasia
• Hypoplastic pelvis
• Short greater sciatic notch
• Metaphyseal dysplasia
• Anterior rib cupping
• Platyspondyly
• Lumbar hyperlordosis

Also known as: spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, Schmidt type