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Metadata
ID DOID:0112300
Name spondylometaphyseal dysplasia with cone-rod dystrophy
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.
https://pubmed.ncbi.nlm.nih.gov/15326626/, https://pubmed.ncbi.nlm.nih.gov/24387990/
Xrefs

GARD:10647

MESH:C563825

MIM:608940

ORDO:85167

UMLS_CUI:C1837073

Subsets

DO_rare_slim

Synonyms

SMD-CRD [EXACT]

SMDCRD [EXACT]

spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [EXACT]

Parent Relationships

is_a spondylometaphyseal dysplasia

is_a autosomal recessive disease

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