Medicine:Intellectual disability-spasticity-ectrodactyly syndrome
From HandWiki
| Intellectual disabilitt-spasticity-ectrodactyly syndrome | |
|---|---|
| Other names | Jancar syndrome |
 | |
| Specialty | Medical genetics |
| Symptoms | intellectual disabilities, spastic paraplegia, and distal limb defects such as ectrodactyly |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Risk factors | Being part of a consanguineous family, being of Middle Eastern descent. |
| Prevention | none |
| Frequency | 3 families in the Middle East and Europe have been described in medical literature |
| Deaths | - |
Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome,[1][2] is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly.[3][4] Only 3 families in England and Israel have been described in medical literature.[5][6][7][8]
References
- ↑ "Intellectual disability, spasticity, ectrodactyly syndrome (Concept Id: C0796001) - MedGen - NCBI". https://www.ncbi.nlm.nih.gov/medgen/167091.
- ↑ Roberts, Sean (16 June 2022). "Intellectual disability-spasticity-ectrodactyly syndrome" (in en-US). https://rarediseases.org/gard-rare-disease/intellectual-disability-spasticity-ectrodactyly-syndrome/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Intellectual disability spasticity ectrodactyly syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1891.
- ↑ "Intellectual disability-spasticity-ectrodactyly syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/3523/intellectual-disability-spasticity-ectrodactyly-syndrome.
- ↑ "Entry - 246555 - Limb defects, distal transverse, with mental retardation and spasticity - OMIM" (in en-us). https://omim.org/entry/246555#3.
- ↑ Jancar, J. (2008-06-28). "Ectrodactyly, spasticity and mental retardation" (in en). Journal of Intellectual Disability Research 11 (3): 207–211. doi:10.1111/j.1365-2788.1967.tb00221.x. PMID 6056808. https://onlinelibrary.wiley.com/doi/10.1111/j.1365-2788.1967.tb00221.x.
- ↑ Zlotogora, Joël; Reynolds, James F. (1987-01-01). "Mental retardation, spastic paraplegia, and transverse limb defects" (in en). American Journal of Medical Genetics 26 (1): 221–223. doi:10.1002/ajmg.1320260133. ISSN 0148-7299. PMID 3812566. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320260133.
- ↑ Zlotogora, Joël; Glick, Benjamin (1993-08-01). "Jancar syndrome: Mental retardation, spasticity, and distal transverse limbs defects" (in en). American Journal of Medical Genetics 47 (1): 89–90. doi:10.1002/ajmg.1320470118. ISSN 0148-7299. PMID 8368260. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320470118.
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