Witkop syndrome

Alternate names

Tooth and nail syndrome; TNS; Dysplasia of nails with hypodontia; Hypodontia - dysplasia of nails

Definition

Witkop's syndrome is a rare autosomal dominant disorder characterized by tooth and nail abnormalities. It is a variant of ectodermal dysplasia..

Epidemiology

It is thought to occur in approximately 1 in 100,000 live births.

Cause

The syndrome is caused by a mutation in the MSX1 gene (4p16.1).

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Transmission is autosomal dominant.

Signs and symptoms

• The primary teeth are usually normal but the permanent teeth often fail to erupt.
• The mandibular incisors, second molars, and maxillary canines are frequently absent and the crowns may be small and conical.
• Lip eversion may be present.
• Nails are usually small, thin and brittle with longitudinal ridges, pitting and koilonychias.
• Congenital absence of the nail plate has also been reported.
• Toenails are usually more severely affected than fingernails.
• Sweat glands, heat tolerance and hair are normal, although fine hair has been described in some cases.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Agenesis of permanent teeth(Failure of development of permanent teeth)
• Conical tooth(Cone shaped tooth)
• Delayed eruption of teeth(Delayed eruption)
• Fragile nails(Brittle nails)
• Hypodontia(Failure of development of between one and six teeth)
• Hypoplastic fingernail(Small fingernail)
• Hypoplastic toenails(Underdeveloped toenails)
• Ridged fingernail(Longitudinally grooved fingernails)
• Thin toenail

30%-79% of people have these symptoms

• Everted lower lip vermilion(Drooping lower lip)
• Fine hair(Fine hair shaft)

5%-29% of people have these symptoms

• Polycystic ovaries

Diagnosis

Diagnosis is usually made during mid-childhood when persistence of the primary dentition becomes apparent, but the syndrome may be difficult to diagnose as the nail defects may be mild.

Differential diagnosis The differential diagnosis should include other forms of ectodermal dysplasia, in particular hypohidrotic ectodermal dysplasia.

Treatment

There is no specific treatment but oral health care and dental management are recommended.

Prognosis

The prognosis is good. The nail defects usually become less apparent with age and the nails often appear normal by adulthood.

NIH genetic and rare disease info

• NIH info on Witkop syndrome

Witkop syndrome is a rare disease.

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