Medicine:Spondylometaphyseal dysplasia with cone-rod dystrophy
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Short description: Medical condition
| 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
- ↑ "Spondylometaphyseal dysplasia with cone-rod dystrophy". 16 June 2022. https://rarediseases.org/gard-rare-disease/spondylometaphyseal-dysplasia-with-cone-rod-dystrophy/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Spondylometaphyseal dysplasia cone rod dystrophy syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85167.
- ↑ 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. https://doi.org/10.3109/13816810903397812.
- ↑ "Entry - #608940 - SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD — OMIM" (in en-us). https://omim.org/entry/608940#1.
- ↑ "Spondylometaphyseal dysplasia with cone-rod dystrophy — About the Disease — Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/10647/spondylometaphyseal-dysplasia-with-cone-rod-dystrophy/.
- ↑ "KEGG DISEASE: Spondylometaphyseal dysplasia with cone-rod dystrophy". https://www.genome.jp/entry/H01821.
- ↑ "Alliance of Genome Resources". https://www.alliancegenome.org/disease/DOID:0112300.
- ↑ "Spondylometaphyseal dysplasia with cone-rod dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-04-13. https://rarediseases.info.nih.gov/diseases/10647/spondylometaphyseal-dysplasia-with-cone-rod-dystrophy.
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