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spondylometaphyseal dysplasia with cone-rod dystrophy
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease spondylometaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112300
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009803 | Short phalanx of finger |
| HP:0000887 | Cupped ribs |
| HP:0005054 | Metaphyseal spurs |
| HP:0000568 | Microphthalmia |
| HP:0003026 | Short long bone |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
| HP:0001132 | Lens subluxation |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000403 | Recurrent otitis media |
| HP:0000529 | Progressive visual loss |
