| Nance–Horan syndrome | |
|---|---|
| Other names | X-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental syndrome, and mesiodens–cataract syndrome. |
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| This condition is inherited in an X-linked dominant manner. | |
| Specialty | Ophthalmology |
Nance–Horan syndrome, also known as X-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental syndrome, and mesiodens–cataract syndrome, is a rare X-linked syndrome characterized by eye and teeth abnormalities, intellectual disability, and facial deformities.
Signs and symptoms
The main ocular sign of Nance–Horan syndrome is a congenital nuclear cataract which results in reduced visual acuity. Other ocular features include microphthalmia, microcornea, strabismus, and nystagmus. Dental features include tapered premolar/molar cusps, supernumerary teeth, screwdriver-shaped incisors, and diastema. Abnormal facial features include anteverted pinnae, prominent and bulbous nose, and long narrow face. 30% of males with Nance–Horan syndrome have intellectual disabilities. Carrier females exhibit less severe clinical symptoms, including lens opacities at the posterior Y-sutures with minimal or no loss of vision, modest face dysmorphism, and dental abnormalities.
Genetics
This syndrome is caused by mutations in the Nance Horan gene (NHS) which is located on the short arm of the X chromosome (Xp22.13).
Diagnosis
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Management
There is no known cure for this syndrome. Patients usually need ophthalmic surgery and may also need dental surgery. Genetic counseling and screening of the mother's relatives is recommended.
History
This syndrome was first described by Margaret B. Horan and Walter Elmore Nance in 1974.
References
- De Souza, Neil; Chalakkal, Paul; Martires, Sergio; Soares, Renita (2019). "Oral manifestations of Nance–Horan syndrome: A report of a rare case". Contemporary Clinical Dentistry. 10 (1): 174–177. doi:10.4103/ccd.ccd_490_18. ISSN 0976-237X. PMC 6975004. PMID 32015664.
- ^ Guven, Yeliz; Saracoglu, Hilal Piril; Aksakal, Sermin Dicle; Kalayci, Tugba; Altunoglu, Umut; Uyguner, Zehra Oya; Eraslan, Serpil; Borklu, Esra; Kayserili, Hulya (2023-05-23). "Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families". BMC Oral Health. 23 (1): 314. doi:10.1186/s12903-023-03029-4. ISSN 1472-6831. PMC 10204325. PMID 37221585.
- Tug, Esra; Dilek, Nihal F.; Javadiyan, Shahrbanou; Burdon, Kathryn P.; Percin, Ferda E. (2013). "A Turkish family with Nance-Horan syndrome due to a novel mutation". Gene. 525 (1): 141–145. doi:10.1016/j.gene.2013.03.094. PMID 23566852.
- Horan, Margaret B.; Billson, F. A. (1974). "X-Linked Cataract and Hutchinsonian Teeth". Journal of Paediatrics and Child Health. 10 (2): 98–102. doi:10.1111/j.1440-1754.1974.tb01098.x. S2CID 71936293.
- Nance, WE; Warburg, M; Bixler, D; Helveston, EM (1974). "Congenital X-linked cataract, dental anomalies and brachymetacarpalia". Birth Defects Original Article Series. 10 (4): 285–91. PMID 4470901.
Further reading
- Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang (2018-02-05). "A novel small deletion in the NHS gene associated with Nance-Horan syndrome". Scientific Reports. 8 (1). Springer Science and Business Media LLC. doi:10.1038/s41598-018-20787-2. ISSN 2045-2322. PMC 5799206.
- Yu, Xuelin; Zhao, Yueyue; Yang, Zhenghua; Chen, Xing; Kang, Gangjing (2024). "Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene". Gene. 906. Elsevier BV: 148223. doi:10.1016/j.gene.2024.148223. ISSN 0378-1119. PMID 38286268.
External links
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