Nance-Horan syndrome

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Nance-Horan syndrome2016-11-27T13:27:31+00:00

Nance-Horan syndrome

DENTISTRY, GENETICS, OPHTHALMOLOGY   

An X-linked condition (OMIM:302350) characterised by congenital cataracts, dental anomalies–e.g., supernumerary incisors and crown shaped (“screwdriver”) permanent teeth, dysmorphic features–e.g., anteverted pinnae, long face, and prominent nasal bridge and nose, and often, mental retardation. Carrier females have milder manifestations of the above findings.

Molecular pathology Defects of NHS, which encodes a protein that play a role in the development of the eyes, teeth, and brain, cause Nance-Horan syndrome.

Synonyms Brachymetacarpalia-cataract-mesiodens syndrome, cataract-dental syndrome, cataract—X-linked—with Hutchinsonian teeth, mesiodens-cataract syndrome, NHS, X-linked cataract-dental syndrome , X-linked cataract-dental syndrome

References http://omim.org/entry/302350

http://www.uniprot.org/uniprot/Q6T4R5

http://rarediseases.info.nih.gov/GARD/Condition/7161/NanceHoran_syndrome.aspx

 

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