The Nance-Horan Syndrome is a rare hereditary disorder presenting with congenital cataracts and dental abnormalities.


MIM: 302350


Location of genetic defect: Xp22


Inheritance: X-linked

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)


Other findings

(1) microcornea

(2) anteverted and/or simplex pinnae

(3) short metacarpal bones (brachymetacarpalia), especially the fourth

(4) variable mental impairment


To read more or access our algorithms and calculators, please log in or register.