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Nance-Horan syndrome(NHS)

MedGen UID:
208665
Concept ID:
C0796085
Congenital Abnormality
Synonyms: Cataract dental syndrome; Cataract X-linked with Hutchinsonian teeth; Mesiodens cataract syndrome; NHS
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
SNOMED CT: Nance-Horan syndrome (445257004)
 
Gene (location): NHS (Xp22.2-22.13)
OMIM®: 302350
Orphanet: ORPHA627

Definition

Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003). [from OMIM]

Clinical features

Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Prominent nasal bridge
MedGen UID:
324887
Concept ID:
C1837827
Finding
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Prominent nose
MedGen UID:
504445
Concept ID:
CN000419
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Diastema
MedGen UID:
504561
Concept ID:
CN000657
Finding
Increased space between two adjacent teeth in the same dental arch.
Abnormal nasal morphology
MedGen UID:
425310
Concept ID:
CN004530
Finding
Supernumerary maxillary incisor
MedGen UID:
446749
Concept ID:
CN005517
Finding
The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.
Screwdriver-shaped incisors
MedGen UID:
446751
Concept ID:
CN005530
Finding
An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.
Increased number of teeth
MedGen UID:
506432
Concept ID:
CN116800
Finding
The presence of a supernumerary, i.e., extra, tooth or teeth.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Congenital cataract
MedGen UID:
330823
Concept ID:
C1842324
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Retinal detachment
MedGen UID:
368440
Concept ID:
C1963229
Finding
Microcornea
MedGen UID:
504458
Concept ID:
CN000450
Finding
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Visual loss
MedGen UID:
504502
Concept ID:
CN000537
Finding
Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that).
Posterior Y-sutural cataract
MedGen UID:
429181
Concept ID:
CN007058
Finding
A type of sutural cataract in which the opacity follows the posterior Y suture.
Aplasia/Hypoplasia affecting the eye
MedGen UID:
446891
Concept ID:
CN007083
Finding
Macrotia
MedGen UID:
349900
Concept ID:
C1860838
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Intellectual disability, moderate
MedGen UID:
505205
Concept ID:
CN002126
Finding
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Broad finger
MedGen UID:
375540
Concept ID:
C1844906
Finding
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Short phalanx of finger
MedGen UID:
447122
Concept ID:
CN008660
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Broad finger
MedGen UID:
375540
Concept ID:
C1844906
Finding
Abnormality of the metacarpal bones
MedGen UID:
427859
Concept ID:
CN001093
Finding
An abnormality of the metacarpal bones.
Short phalanx of finger
MedGen UID:
447122
Concept ID:
CN008660
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGNance-Horan syndrome

Recent clinical studies

Etiology

Hong N, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS
J Zhejiang Univ Sci B 2014 Aug;15(8):727-34. doi: 10.1631/jzus.B1300321. PMID: 25091991Free PMC Article
Lewis RA, Nussbaum RL, Stambolian D
Ophthalmology 1990 Jan;97(1):110-20; discussion 120-1. PMID: 1969135

Diagnosis

Hong N, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS
J Zhejiang Univ Sci B 2014 Aug;15(8):727-34. doi: 10.1631/jzus.B1300321. PMID: 25091991Free PMC Article
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
Ophthalmic Genet 2012 Jun;33(2):89-95. Epub 2012 Jan 9 doi: 10.3109/13816810.2011.634881. [Epub ahead of print] PMID: 22229851
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
Hum Mol Genet 2009 Jul 15;18(14):2643-55. Epub 2009 May 4 doi: 10.1093/hmg/ddp206. [Epub ahead of print] PMID: 19414485Free PMC Article
Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE
Mol Vis 2008;14:1856-64. Epub 2008 Oct 20 PMID: 18949062Free PMC Article
Mathys R, Deconinck H, Keymolen K, Jansen A, Van Esch H
Bull Soc Belge Ophtalmol 2007;(305):49-53. PMID: 18018428

Prognosis

Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE
Gene 2013 Aug 1;525(1):141-5. Epub 2013 Apr 6 doi: 10.1016/j.gene.2013.03.094. [Epub ahead of print] PMID: 23566852
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
Hum Mol Genet 2009 Jul 15;18(14):2643-55. Epub 2009 May 4 doi: 10.1093/hmg/ddp206. [Epub ahead of print] PMID: 19414485Free PMC Article
Mathys R, Deconinck H, Keymolen K, Jansen A, Van Esch H
Bull Soc Belge Ophtalmol 2007;(305):49-53. PMID: 18018428
Katoh M, Katoh M
Int J Oncol 2004 Apr;24(4):1033-8. PMID: 15010845
Walpole SM, Ronce N, Grayson C, Dessay B, Yates JR, Trump D, Toutain A
Hum Genet 1999 May;104(5):410-1. PMID: 10394933

Clinical prediction guides

Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE
Gene 2013 Aug 1;525(1):141-5. Epub 2013 Apr 6 doi: 10.1016/j.gene.2013.03.094. [Epub ahead of print] PMID: 23566852
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
Hum Mol Genet 2009 Jul 15;18(14):2643-55. Epub 2009 May 4 doi: 10.1093/hmg/ddp206. [Epub ahead of print] PMID: 19414485Free PMC Article
Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G
Invest Ophthalmol Vis Sci 2005 Jan;46(1):17-23. doi: 10.1167/iovs.04-0477. PMID: 15623749
Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A
Ophthalmic Genet 2004 Jun;25(2):121-31. doi: 10.1080/13816810490514360. PMID: 15370543
Walpole SM, Ronce N, Grayson C, Dessay B, Yates JR, Trump D, Toutain A
Hum Genet 1999 May;104(5):410-1. PMID: 10394933

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