What Is Tooth And Nail Syndrome?

Tooth and Nail Syndrome is an extremely rare genetic condition which is characterized by a collection of diseases affecting mainly the teeth, nail, hair, and skin. Tooth and Nail Syndrome belongs to a collection of diseases called ectodermal dysplasia.

The classic presenting feature of Tooth and Nail Syndrome is deformed or underdeveloped teeth or in some cases complete absence of primary and secondary teeth. This is also associated with underdeveloped nails, especially the toenails.

Even if there is presence of teeth in an individual with Tooth and Nail Syndrome, the teeth will be spaced wide apart from each other and will be in a shape of a cone. The toenails of individuals with Tooth and Nail Syndrome will be spoon shaped and abnormally small.

This condition follows an autosomal dominant trait meaning that only one copy of the defective gene from any one parent is good enough for a child to develop Tooth and Nail Syndrome.

What Is Tooth And Nail Syndrome?

What Are The Causes Of Tooth And Nail Syndrome?

As stated, Tooth and Nail Syndrome follows an autosomal dominant trait meaning that only one copy of the faulty gene is required from any parent for development of this condition. The faulty gene which causes Tooth and Nail Syndrome is termed as MSX1.

This faulty gene is responsible for production of proteins which deals with development of teeth, nails, and skin. A mutation in this gene results in decreased production of this protein causing the classic features of what is termed as Tooth and Nail Syndrome.

What Are The Symptoms Of Tooth And Nail Syndrome?

As stated, Tooth and Nail Syndrome is a part of a group of disease conditions called ectodermal dysplasia. The condition is extremely rare and affects the tooth, nails, and sometimes the skin. The classic presenting feature of Tooth and Nail Syndrome is complete absence of teeth or underdevelopment of primary and secondary teeth.

Inadequate development of nails is also one of the symptoms noted with Tooth and Nail Syndrome. In some cases, there may be abnormalities seen in the scalp hair of individuals with Tooth and Nail Syndrome. Another prominent symptom for Tooth and Nail Syndrome is the shape of the teeth, if present, they are usually conical in shape giving it a distinct appearance.

The teeth if present may also be widely spaced apart. In some cases, children with Tooth and Nail Syndrome may have an outward turned lower lip which gives it a shape of a pout. This is because of the absence of certain primary and secondary teeth.

Additionally, individuals with Tooth and Nail Syndrome also have abnormalities of the nails. The nails may be abnormally short and are usually spoon shaped. In some cases, the nails may be completely absent. The absence of nails may be congenital or it may take a long time for the nails to grow from the time of birth till the child is about 3 years of age.

The abnormality in the shape of the nails is more prominent in the toenails than in the fingernails. Another common symptom is abnormally thin hairs in the scalp that can be seen in individuals with Tooth and Nail Syndrome.

How Is Tooth And Nail Syndrome Diagnosed?

Tooth and Nail Syndrome may be suspected at the time of birth of a child if one or more fingernails or toenails are absent in the infant. The actual diagnosis of Tooth and Nail Syndrome is difficult to make until the child is about 5 years of age when the symptoms fully develop with the child having absent or malformed teeth and having other prominent symptoms of Tooth and Nail Syndrome.

In some cases, a confirmed diagnosis of Tooth and Nail Syndrome is not made until the child reaches teenage years when there is absence of permanent teeth and there is significant abnormality in the fingernails and toenails of the individual.

Based on the appearance of the nails and teeth and a clinical evaluation, a genetic testing may be done which will clearly show mutation of the MSX1 gene which will confirm the diagnosis of Tooth and Nail Syndrome.

How Is Tooth And Nail Syndrome Treated?

The treatment of Tooth and Nail Syndrome is purely supportive and symptomatic. It requires a multidisciplinary approach with inputs required from various specialties including pediatricians, dentists, dental surgeons, orthodontists which may collectively formulate a treatment plan for the patient.

Dental restoration is the mainstay of treatment. Artificial teeth or other prosthetic devices may be utilized to replace absent teeth so that the patient is able to eat solid food without any problems. Braces may also be of help in treating the misshapen teeth as a result of Tooth and Nail Syndrome. Dental surgery may also be required to correct other dental abnormalities. Apart from this, treatment is only supportive for Tooth and Nail Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: November 1, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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