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,^[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]

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