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Nance–Horan syndrome

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Nance–Horan syndrome
Other namesX-linked congenital cataracts and microcornea, X-linked cataract–dental syndrome, cataracts-oto-dental syndrome, cataract–dental syndrome, and mesiodens–cataract syndrome.
This condition is inherited in an X-linked dominant manner.
SpecialtyOphthalmology

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.[1][2]

Signs and symptoms

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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.[2]

Genetics

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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).[3]

Diagnosis

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Management

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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.[citation needed]

History

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This syndrome was first described by Margaret B. Horan and Walter Elmore Nance in 1974.[4][5]

References

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  1. ^ 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.
  2. ^ a b 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.
  3. ^ 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.
  4. ^ 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.
  5. ^ 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

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