Absence deformity of leg-cataract syndrome

Absence deformity of leg-cataract syndrome
Absence deformity of leg-cataract syndrome
Specialty	Medical genetics
Complications	Vision impairment
Causes	Genetic mutation
Prevention	none
Prognosis	Medium, nearing bad
Frequency	very rare, only 2 cases have been described
Deaths	-

Absence deformity of leg-cataract syndrome is a very rare genetic limb malformation which is characterized by unilateral absence deformity, scoliosis, low stature, and optic nerve dysplasia-associated congenital cataract.[1] It has been described in two distantly related kin of Amish descent.[2][3]

References

"Orphanet: Absence deformity of leg cataract syndrome". www.orpha.net. Retrieved 2022-06-10.
"OMIM Entry - % 246000 - LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT". omim.org. Retrieved 2022-06-10.
McKusick, V. A.; Weilbaecher, R. G.; Gragg, G. W. (1968-04-08). "Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts". JAMA. 204 (2): 113–118. doi:10.1001/jama.1968.03140150017004. ISSN 0098-7484. PMID 5694533.

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[1] "Orphanet: Absence deformity of leg cataract syndrome". www.orpha.net. Retrieved 2022-06-10.

[2] "OMIM Entry - % 246000 - LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT". omim.org. Retrieved 2022-06-10.

[3] McKusick, V. A.; Weilbaecher, R. G.; Gragg, G. W. (1968-04-08). "Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts". JAMA. 204 (2): 113–118. doi:10.1001/jama.1968.03140150017004. ISSN 0098-7484. PMID 5694533.