Karsch-Neugebauer syndrome
MONDO:0008466
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
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Split hand split foot-nystagmus syndrome
Split hand split foot-nystagmus syndrome, also known as Karsch–Neugebauer syndrome, is a rare genetic disorder which is characterized by the absence of the central rays of the hands and feet resulting in an apparent "split hand and split foot", alongside congenital nystagmus and other eye abnormalities such as cataracts. It is inherited in an autosomal dominant manner. Only 10 cases from 4 families worldwide have been described in medical literature.
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.