The Nance-Horan Syndrome is a rare hereditary disorder presenting with congenital cataracts and dental abnormalities.
Location of genetic defect: Xp22
Females are carriers but may show some phenotypic features such as cataracts.
Key clinical findings:
(1) congenital cataracts
(2) dental anomalies (screwdriver-shaped incisors, diastema = widely spaced teeth, supernumerary maxillary incisors)
(2) anteverted and/or simplex pinnae
(3) short metacarpal bones (brachymetacarpalia), especially the fourth
(4) variable mental impairment
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Specialty: Genetics, Neurology