anauxetic dysplasia 2

A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.

Signs and symptoms

• J-shaped sella turcica
• Metaphyseal dysplasia
• Cervical spine instability
• Ovoid vertebral bodies
• Posterior wedging of vertebral bodies
• Intrauterine growth retardation
• Brachydactyly
• Short stature
• Flexion contracture
• Short femoral neck