|Synonyms||Cataract X-linked with Hutchinsonian teeth|
|X-linked dominant inheritance works differently depending upon whether the mother (left image) or father (right image) is the carrier of a gene that causes a disease or disorder|
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.
- 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
- bilateral congenital nuclear opacities (100%)
- severe amblyopia
- nystagmus (93%)
- strabismus (43%)
- microcornea (96%)
- congenital glaucoma
- scleral staphylomas
- retinal cystoid degeneration
These lead to severe visual impairment in affected males.
- 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.
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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.
- Walpole, I R; Hockey, A; Nicoll, A (1990). "The Nance-Horan syndrome". Journal of Medical Genetics. 27 (10): 632–4. doi:10.1136/jmg.27.10.632. PMC 1017242. PMID 2246772.
- Bixler, D; Higgins, M; Hartsfield Jr, J (1984). "The Nance-Horan syndrome: A rare X-linked ocular-dental trait with expression in heterozygous females". Clinical genetics. 26 (1): 30–5. doi:10.1111/j.1399-0004.1984.tb00783.x. PMID 6467651.
- Tug, Esra; Dilek, Nihal F.; Javadiyan, Shahrbanou; Burdon, Kathryn P.; Percin, Ferda E. (2013). "A Turkish family with Nance-Horan syndrome due to a novel mutation". Gene. 525: 141–145. doi:10.1016/j.gene.2013.03.094. PMID 23566852.
- Horan, Margaret B.; Billson, F. A. (1974). "X-Linked Cataract and Hutchinsonian Teeth". Journal of Paediatrics and Child Health. 10 (2): 98–102. doi:10.1111/j.1440-1754.1974.tb01098.x.
- Nance, WE; Warburg, M; Bixler, D; Helveston, EM (1974). "Congenital X-linked cataract, dental anomalies and brachymetacarpalia". Birth defects original article series. 10 (4): 285–91. PMID 4470901.