Misplaced Pages

Spondylometaphyseal dysplasia with cone-rod dystrophy

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Medical condition
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (August 2022)
Medical condition
Spondylometaphyseal dysplasia with cone-rod dystrophy
Other namesSMD-CRD (abbr.)
SpecialtyMedical genetics
SymptomsAffecting osseos system of the body
ComplicationsVision impairment
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisMedium
Frequencyrare, 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. Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date. This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3.

Other symptoms include rib anomalies, astigmatism, abnormalities in color vision, severe hyperopia/myopia, hyperlordosis, nyctalopia, nystagmus, scoliosis, and photophobia.

References

  1. "Spondylometaphyseal dysplasia with cone-rod dystrophy". 16 June 2022.
  2. 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)
  3. 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.
  4. "Entry - #608940 - SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD — OMIM". omim.org. Retrieved 2022-07-31.
  5. "Spondylometaphyseal dysplasia with cone-rod dystrophy — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-31.
  6. "KEGG DISEASE: Spondylometaphyseal dysplasia with cone-rod dystrophy". www.genome.jp. Retrieved 2022-07-31.
  7. "Alliance of Genome Resources". www.alliancegenome.org. Retrieved 2022-07-31.
  8. "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.
Stub icon

This genetic disorder article is a stub. You can help Misplaced Pages by expanding it.

Categories: