Nance-Horan syndrome

ナンス・ホーラン症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. a river of western Thailand flowing southward to join the Ping River to form the Chao Phraya (同)Nan River

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/03/07 13:30:55」(JST)

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Nance–Horan syndrome is a rare X linked syndrome characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males.

Genetics

This syndrome is due to mutations in the Nance Horan gene (NHS) which is located on the short arm of the X chromosome (Xp22.13).

Clinical features

Dental features:

• small teeth in males
• pointed (screwdriver shaped or conical) incisors (sometimes called Hutchinson teeth)
• incisors with an irregulal incisal edge
• canines: enlarged and globular; may be dome or bud shaped with trilobed edge
• premolars and molars: small, round and globular; may have supernumary lobes (mulberry or lotus flower shape)
• widely separated teeth (diastemma)
• hypoplastic enamel
• dental agenesis
• presence of mesiodents (median incisor behind normal upper incisors)
• pulp chamber anomalies

Facial features:

• anteverted pinnae
• long face
• prominent nasal bridge and nose
• prognathism occasionally

Ophthalmic features:

• bilateral congenital nuclear opacities (100%)
• severe amblyopia
• nystagmus (93%)
• strabismus (43%)
• microcornea (96%)
• congenital glaucoma
• scleral staphylomas
• retinal cystoid degeneration
• microphthalmia

These lead to severe visual impairment in affected males.

Other:

• The fourth metacarpal may be shortened

30% of patients also have some degree of intellectual impairment: of these 80% are mildly to moderately affected: the other 20% may have developmental delays and behavior problems.

Carrier females display milder variable symptoms of disease. Ocular signs are present in 90% of heterozygous females. These are typically lens opacities often involving the posterior Y sutures. More rarely dental anomalies and the characteristic facial features may also occur.

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

English Journal

• Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

• Hong N1, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS.
• Journal of Zhejiang University. Science. B.J Zhejiang Univ Sci B.2014 Aug;15(8):727-34. doi: 10.1631/jzus.B1300321.
• OBJECTIVE: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical f
• PMID 25091991

• ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

• Wang SK1, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC.
• Human molecular genetics.Hum Mol Genet.2014 Apr 15;23(8):2157-63. doi: 10.1093/hmg/ddt611. Epub 2013 Dec 4.
• Integrins are cell-surface adhesion receptors that bind to extracellular matrices (ECM) and mediate cell-ECM interactions. Some integrins are known to play critical roles in dental enamel formation. We recruited two Hispanic families with generalized hypoplastic amelogenesis imperfecta (AI). Analysi
• PMID 24305999

• A Turkish family with Nance-Horan Syndrome due to a novel mutation.

• Tug E1, Dilek NF, Javadiyan S, Burdon KP, Percin FE.
• Gene.Gene.2013 Aug 1;525(1):141-5. doi: 10.1016/j.gene.2013.03.094. Epub 2013 Apr 6.
• Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heteroz
• PMID 23566852

Japanese Journal

• A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

• Journal of human genetics 57(3), 197-201, 2012-03-01
• NAID 10030712110

• Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome

• Journal of human genetics 56(1), 8-11, 2011-01-01
• NAID 10030657134

• Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'

• Journal of human genetics 56(1), 4, 2011-01-01
• NAID 10030657102

Related Links

• Nance-Horan syndrome - Orphanet

References Bergen A.A., Ten Brink J., Schuurman E.J.M., Bleeker-Wagemakers E.M. Nance-Horan syndrome: linkage analysis in a family from the Netherlands. Genomics, 1994, 21: 238-240. Bixler D., Higgins M., Hartsfield J. The ...

• Nance-Horan Syndrome Symptoms, Diagnosis, Treatments ...

Nance-Horan Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Nance-Horan Syndrome: Introduction Nance-Horan Syndrome: An ...

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中手指骨短縮・白内障・正中歯症候群 brachymetacarpia-cataract-mesiodens syndrome

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