W

13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown. This disease is also known as:13q- Syndrome, Partial, Deletion 13q Syndrome, Partial Monosomy 13q, Partial Partial Monosomy of the Long Arm of Chromosome 13

W

Ackerman syndrome is a familial syndrome of fused molar roots with a single canal (taurodontism), hypotrichosis, full upper lip without a cupid's bow, thickened and wide philtrum, and occasional juvenile glaucoma. It was described by James L. Ackerman, A. Leon Ackerman, and A. Bernard Ackerman.

W

Cracked tooth syndrome (CTS) is where a tooth has incompletely cracked but no part of the tooth has yet broken off. Sometimes it is described as a greenstick fracture. The symptoms are very variable, making it a notoriously difficult condition to diagnose.

W

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.

W

Ellis–van Creveld syndrome is a rare genetic disorder of the skeletal dysplasia type.

W

Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited syndrome characterized by epilepsy, psychomotor delay or regression, intellectual disability, and yellow teeth caused by amelogenesis imperfecta. It is a type A ectodermal dysplasia.

W

Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.

W

Lelis syndrome it is a genetic disorder, a rare condition with dermatological and dental findings characterized by the association of ectodermal dysplasia with acanthosis nigricans. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit, disturbances of skin pigmentation and hypodontia. Transmission is autosomal recessive.

W

Lyngstadaas Syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency , is a rare autosomal recessive liver disease involving an enzyme deficiency and dental anomalies. The disease is named after the Norwegian professor Ståle Petter Lyngstadaas.

W

Meige's syndrome is a type of dystonia. It is also known as Brueghel's syndrome and oral facial dystonia. It is actually a combination of two forms of dystonia, blepharospasm and oromandibular dystonia (OMD).

W

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.

W

Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.

W

Smith–Fineman–Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome was named after Richard D. Smith, Robert M. Fineman and Gart G. Myers who discovered it around 1980.

W

Tricho-dento-osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in Virginia, Tennessee, and North Carolina. The cause of this disease is a mutation in the DLX3 gene, which controls hair follicle differentiation and induction of bone formation. One-hundred percent of patients with TDO suffer from two co-existing conditions called enamel hypoplasia and taurodontism in which the abnormal growth patterns of the teeth result in severe external and internal defects. The hair defects are characterized as being rough, course, with profuse shedding. Hair is curly and kinky at infancy but later straightens. Dental defects are characterized by dark-yellow/brownish colored teeth, thin and/or possibly pitted enamel, that is malformed. The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance. Additionally, severe underbites where the top and bottom teeth fail to correctly align may be present; it is common for the affected individual to have a larger, more pronounced lower jaw and longer bones. The physical deformities that TDO causes become more noticeable with age, and emotional support for the family as well as the affected individual is frequently recommended. Adequate treatment for TDO is a team based approach, mostly involving physical therapists, dentists, and oromaxillofacial surgeons. Genetic counseling is also recommended.

W

Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as "elfin". While mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing is typical, verbal skills are generally relatively unaffected. Those affected often have an outgoing personality, interact readily with strangers, and appear happy. Problems with teeth, heart problems, and periods of high blood calcium are common.