Nance-Horan syndrome-The oral perspective on a rare disease

Am J Med Genet A. 2017 Jan;173(1):88-98. doi: 10.1002/ajmg.a.37963. Epub 2016 Sep 12.


The present study describes seven patients with Nance-Horan syndrome, all referred to a specialized oral care unit in the Central Denmark Region. A literature search on "Nance Horan Syndrome" resulted in 53 publications among which 29 reported on dental findings. Findings reported in these papers have been systematized to obtain an overview of the reported findings and the terminology on dental morphology. All seven patients included in the present study showed deviations of crown morphology on incisors and/or molars. The only consistent and very clear dental aberration was alterations in the tooth morphology that is screwdriver-shaped incisors and bud molars being most pronounced in the permanent dentition, but were also present in the primary dentition. In addition, three patients had supernumerary teeth, and three had dental agenesis. In conclusion, a dental examination as a part of the diagnostic process may reveal distinct characteristics of the dental morphology, which could be of diagnostic value and facilitate an early diagnosis. In the description of molar morphology in NHS patients, it is recommended to use the term "bud molar." The combination of congenital cataract, screwdriwer-shaped incisors and bud-shaped molars is a strong clinical indication of Nance-Horan syndrome. © 2016 Wiley Periodicals, Inc.

Keywords: Nance-Horan syndrome; dental morphology; dentition; screwdriver-shaped; tooth anomaly.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Cataract / congenital*
  • Cataract / diagnosis
  • Cataract / genetics
  • Child
  • Denmark
  • Facies
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Male
  • Mouth Abnormalities* / diagnosis
  • Mouth Abnormalities* / genetics
  • Phenotype*
  • Radiography
  • Rare Diseases
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / genetics
  • Young Adult

Supplementary concepts

  • Nance-Horan syndrome