spondyloepimetaphyseal dysplasia, Strudwick type

A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphys

A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Signs and symptoms

• Disproportionate short-limb short stature
• Pectus carinatum
• Severe short stature
• Club-shaped proximal femur
• Brachydactyly
• Hypoplasia of the odontoid process
• Inguinal hernia
• Narrow greater sciatic notch
• Hypoplastic pubic bone
• Metaphyseal dappling