Format

Send to:

Choose Destination

Links from PubMed

Nance-Horan syndrome(NHS)

MedGen UID:
208665
Concept ID:
C0796085
Disease or Syndrome
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
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
X-linked dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Nance-Horan syndrome (445257004)
 
Gene (location): NHS (Xp22.2-22.13)
OMIM®: 302350

Disease characteristics

Excerpted from the GeneReview: Microphthalmia/Anophthalmia/Coloboma Spectrum
Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Tanya Bardakjian  |  Avery Weiss  |  Adele Schneider   view full author information

Additional descriptions

From GeneReviews Overview
Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination.  https://www.ncbi.nlm.nih.gov/books/NBK1378
From OMIM
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).  http://www.omim.org/entry/302350

Clinical features

Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Broad finger
MedGen UID:
375540
Concept ID:
C1844906
Finding
Increased width of a non-thumb digit of the hand.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Broad finger
MedGen UID:
375540
Concept ID:
C1844906
Finding
Increased width of a non-thumb digit of the hand.
Diastema
MedGen UID:
3800
Concept ID:
C0011998
Anatomical Abnormality
An abnormal opening or fissure between two adjacent teeth.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
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.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Screwdriver-shaped incisors
MedGen UID:
870607
Concept ID:
C4025058
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.
Supernumerary maxillary incisor
MedGen UID:
870611
Concept ID:
C4025062
Anatomical Abnormality
The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.
Cataract, congenital
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A congenital cataract.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Disturbance of eyesight.
Posterior Y-sutural cataract
MedGen UID:
867202
Concept ID:
C4021560
Pathologic Function
A type of sutural cataract in which the opacity follows the posterior Y suture.

Recent clinical studies

Etiology

Shoshany N, Avni I, Morad Y, Weiner C, Einan-Lifshitz A, Pras E
Curr Eye Res 2017 Sep;42(9):1240-1244. Epub 2017 May 30 doi: 10.1080/02713683.2017.1304560. PMID: 28557584
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V
Birth Defects Res 2017 Jul 3;109(11):866-868. Epub 2017 May 2 doi: 10.1002/bdr2.1032. PMID: 28464487
Tian Q, Li Y, Kousar R, Guo H, Peng F, Zheng Y, Yang X, Long Z, Tian R, Xia K, Lin H, Pan Q
BMC Med Genet 2017 Jan 7;18(1):2. doi: 10.1186/s12881-016-0360-9. PMID: 28061824Free PMC Article
Li A, Li B, Wu L, Yang L, Chen N, Ma Z
Curr Eye Res 2015 Apr;40(4):434-8. Epub 2014 Sep 30 doi: 10.3109/02713683.2014.959606. PMID: 25266737
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

Diagnosis

Gjørup H, Haubek D, Jacobsen P, Ostergaard JR
Am J Med Genet A 2017 Jan;173(1):88-98. Epub 2016 Sep 12 doi: 10.1002/ajmg.a.37963. PMID: 27616609
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. PMID: 22229851
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

Li A, Li B, Wu L, Yang L, Chen N, Ma Z
Curr Eye Res 2015 Apr;40(4):434-8. Epub 2014 Sep 30 doi: 10.3109/02713683.2014.959606. PMID: 25266737
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. 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. 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
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

Li A, Li B, Wu L, Yang L, Chen N, Ma Z
Curr Eye Res 2015 Apr;40(4):434-8. Epub 2014 Sep 30 doi: 10.3109/02713683.2014.959606. PMID: 25266737
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. 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. 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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center