Spondylometaphyseal dysplasia with cone-rod dystrophy
| Spondylometaphyseal dysplasia with cone-rod dystrophy | |
|---|---|
| Other names | SMD-CRD (abbr.)[1] |
 | |
| Specialty | Medical genetics |
| Symptoms | Affecting osseos system of the body |
| Complications | Vision impairment |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Medium |
| Frequency | rare, about 18 cases have been described in medical literature |
| Deaths | - |
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia (which consists of platyspondyly, tubular bone shortening, and progressive cupping of the metaphyses), neonatal growth delays, and cone-rod dystrophy-associated progressive vision loss.[2][3] Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date.[4] This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3.[5][6][7]
Other symptoms include rib anomalies, astigmatism, abnormalities in color vision, severe hyperopia/myopia, hyperlordosis, nyctalopia, nystagmus, scoliosis, and photophobia.[8]
References
[edit]- ^ "Spondylometaphyseal dysplasia with cone-rod dystrophy". 16 June 2022.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Spondylometaphyseal dysplasia cone rod dystrophy syndrome". www.orpha.net. Retrieved 2022-07-31.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Turell, M.; Morrison, S.; Traboulsi, E.I. (2010-03-01). "Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy". Ophthalmic Genetics. 31 (1): 12–17. doi:10.3109/13816810903397812. ISSN 1381-6810. PMID 20141353. S2CID 34466046.
- ^ "Entry - #608940 - SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD — OMIM". omim.org. Retrieved 2022-07-31.
- ^ "Spondylometaphyseal dysplasia with cone-rod dystrophy — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-31.
- ^ "KEGG DISEASE: Spondylometaphyseal dysplasia with cone-rod dystrophy". www.genome.jp. Retrieved 2022-07-31.
- ^ "Alliance of Genome Resources". www.alliancegenome.org. Retrieved 2022-07-31.
- ^ "Spondylometaphyseal dysplasia with cone-rod dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-04-13. Archived from the original on 2021-04-13. Retrieved 2022-07-31.
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