Intellectual disability-spasticity-ectrodactyly syndrome
Другие языки:
Intellectual disability-spasticity-ectrodactyly syndrome
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| 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, 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. Only 3 families in England and Israel have been described in medical literature.