spondylometaphyseal dysplasia with cone-rod dystrophy

A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shor

A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29.

Signs and symptoms

• Flared metaphysis
• Short stature
• Bowing of the legs
• Spondylometaphyseal dysplasia
• Short long bone
• Undetectable electroretinogram
• Metaphyseal irregularity
• Metaphyseal cupping
• Retinal thinning on OCT
• Abnormal macular pigmentation

Also known as: SMD-CRD; SMDCRD; spondylometaphyseal dysplasia-cone-rod dystrophy syndrome