axial spondylometaphyseal dysplasia

A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21

A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.

Signs and symptoms

• Rhizomelia
• Reduced sperm motility
• Optic atrophy
• Rod-cone dystrophy
• Cone/cone-rod dystrophy
• Disproportionate short-trunk short stature
• Proximal femoral metaphyseal irregularity
• Short stature
• Thoracic hypoplasia
• Narrow greater sciatic notch

Also known as: SMD axial; SMDAX