Nance–Horan syndrome is a rare

X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. ...

syndrome characterized by

congenital cataract Congenital cataracts refers to a lens opacity which is present at birth. Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impa ...

s leading to profound

vision loss Visual impairment, also known as vision impairment, is a medical definition primarily measured based on an individual's better eye visual acuity; in the absence of treatment such as correctable eyewear, assistive devices, and medical treatment� ...

, characteristic

dysmorphic feature A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, Genetics, genetic syndrome or birth defect. Dysmorphology is the stud ...

s, and dental anomalies. Microcornea,

microphthalmia Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both ( ...

, and mild or moderate intellectual disability may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males.

Presentation

Dental features: * small teeth in males * pointed (screwdriver shaped or conical) incisors (sometimes called Hutchinson teeth) *

incisor Incisors (from Latin ''incidere'', "to cut") are the front teeth present in most mammals. They are located in the premaxilla above and on the mandible below. Humans have a total of eight (two on each side, top and bottom). Opossums have 18, whe ...

s with an irregular incisal edge *

canines Canine may refer to: Zoology and anatomy * a dog-like Canid animal in the subfamily Caninae ** ''Canis'', a genus including dogs, wolves, coyotes, and jackals ** Dog, the domestic dog * Canine tooth, in mammalian oral anatomy People with the surn ...

: enlarged and globular; may be dome or bud shaped with trilobed edge *

premolar The premolars, also called premolar teeth, or bicuspids, are transitional teeth located between the canine and molar teeth. In humans, there are two premolars per quadrant in the permanent set of teeth, making eight premolars total in the mouth ...

s 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 The auricle or auricula is the visible part of the ear that is outside the head. It is also called the pinna (Latin for "wing" or " fin", plural pinnae), a term that is used more in zoology. Structure The diagram shows the shape and location ...

* long face * prominent nasal bridge and nose *

prognathism Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws pr ...

occasionally Ophthalmic features: * bilateral congenital nuclear opacities (100%) * severe

amblyopia Amblyopia, also called lazy eye, is a disorder of sight in which the brain fails to fully process input from one eye and over time favors the other eye. It results in decreased vision in an eye that typically appears normal in other aspects. Amb ...

nystagmus Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the invol ...

(93%) *

strabismus Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a ...

(43%) * microcornea (96%) * congenital

glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...

* scleral

staphyloma A staphyloma is an abnormal protrusion of the uveal tissue through a weak point in the eyeball. The protrusion is generally black in colour, due to the inner layers of the eye. It occurs due to weakening of outer layer of eye (cornea or sclera) by ...

s * retinal cystoid degeneration *

These lead to severe visual impairment in affected males. Other: * The fourth

metacarpal In human anatomy, the metacarpal bones or metacarpus form the intermediate part of the skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist, which forms the connection to the forearm. The metacarpal bones ...

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.

Genetics

This syndrome is caused by

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...

s in the Nance Horan gene (

NHS The National Health Service (NHS) is the umbrella term for the publicly funded healthcare systems of the United Kingdom (UK). Since 1948, they have been funded out of general taxation. There are three systems which are referred to using the " ...

) which is located on the short arm of the

X chromosome The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-d ...

(Xp22.13).

Diagnosis

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

External links

{{DEFAULTSORT:Nance-Horan syndrome Blindness Disorders of lens Rare genetic syndromes Congenital disorders of eyes Syndromes affecting teeth Syndromes affecting the eye Syndromes with craniofacial abnormalities