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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.