Intellectual disability-spasticity-ectrodactyly syndrome
| 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
[edit]- ^ "Intellectual disability, spasticity, ectrodactyly syndrome (Concept Id: C0796001) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-12.
- ^ Roberts, Sean (16 June 2022). "Intellectual disability-spasticity-ectrodactyly syndrome". NORD (National Organization for Rare Disorders). Retrieved 2022-07-12.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Intellectual disability spasticity ectrodactyly syndrome". www.orpha.net. Retrieved 2022-07-12.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Intellectual disability-spasticity-ectrodactyly syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-12.
- ^ "Entry - 246555 - Limb defects, distal transverse, with mental retardation and spasticity - OMIM". omim.org. Retrieved 2022-07-12.
- ^ Jancar, J. (2008-06-28). "Ectrodactyly, spasticity and mental retardation". Journal of Intellectual Disability Research. 11 (3): 207–211. doi:10.1111/j.1365-2788.1967.tb00221.x. PMID 6056808.
- ^ Zlotogora, Joël; Reynolds, James F. (1987-01-01). "Mental retardation, spastic paraplegia, and transverse limb defects". American Journal of Medical Genetics. 26 (1): 221–223. doi:10.1002/ajmg.1320260133. ISSN 0148-7299. PMID 3812566.
- ^ Zlotogora, Joël; Glick, Benjamin (1993-08-01). "Jancar syndrome: Mental retardation, spasticity, and distal transverse limbs defects". American Journal of Medical Genetics. 47 (1): 89–90. doi:10.1002/ajmg.1320470118. ISSN 0148-7299. PMID 8368260.
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