spondylometaphyseal dysplasia with cone-rod dystrophy

Term ID

DOID:0112300

Synonyms

• SMD-CRD
• SMDCRD
• spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Definition

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. (2)

References

• GARD:10647
• MESH:C563825
• OMIM:608940
• ORDO:85167
• UMLS_CUI:C1837073

Ontology

Human Disease   ( DOID:0112300 )