Jancar syndrome
The Jancar syndrome is a very rare congenital disease with a combination of defects of the lower limbs with mental retardation and spasticity.
The name refers to the author of the first description in 1967 by J. Jancar.
distribution
So far only a few patients have been described.
literature
- J. Zlotogora, B. Glick: Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects. In: American journal of medical genetics. Vol. 47, No. 1, August 1993, ISSN 0148-7299 , pp. 89-90, doi : 10.1002 / ajmg.1320470118 , PMID 8368260 (review).
- J. Zlotogora: Mental retardation, spasticity, and transverse limb defects. In: American journal of medical genetics. Vol. 26, No. 1, January 1987, ISSN 0148-7299 , pp. 221-223, doi : 10.1002 / ajmg.1320260133 , PMID 3812566 .
Web links
Individual evidence
- ↑ Jancar syndrome. In: Orphanet (Rare Disease Database).
- ↑ J. Jancar: ectrodactyly, spastic paraplegia and mental retardation. In: Journal of mental deficiency research. Vol. 11, No. 3, September 1967, ISSN 0022-264X , pp. 207-211, PMID 6056808 .