Magazine article The Exceptional Parent

The Relationship between Genetic Disorders and Oral Health: Part VII

Magazine article The Exceptional Parent

The Relationship between Genetic Disorders and Oral Health: Part VII

Article excerpt

Many genetic disorders manifest themselves with different expressions of oral disease. This may include a high frequency of dental decay, susceptibility to periodontal (gum) disease, premature loss of teeth, delayed eruption of teeth, congenitally missing teeth, and malformed, conically-shaped teeth. In addition, specific pathologies of the tongue, the jaw bone and the mucosa, and malformations such as common cleft lip and palate, are also observed and associated with genetic disorders.

The mouth will offer the clinician important clues for the diagnosis of several genetic diseases, Some oral-cavity findings may lead to early diagnosis of a genetic disorder, such as the typical gingival (gum) enlargement seen in mucolipidosis II. Other findings may serve as an early warning of a more complex disorder. For example, enlargement of one side of the tongue may indicate congenital hemihypertrophy. Because of these oral-cavity symptoms of genetic disorders, the dentist should be part of the team that makes the diagnosis, develops the treatment approach and manages the ongoing care of children with special needs.


It is generally understood that specific traits of individuals are the result of interactions between their genetic makeup ("nature") and their environment, including the intrauterine environment ("nurture"). By extension, the manifestations of a specific disorder-malformations, anomalies of the teeth, tongue, and other oral structures-come partly from "nature" and partly from "nurture." Genetic disorders are classified under three broad categories:

* Single locus, or Mendelian

These are disorders produced and regulated by a single gene. Although any one of them may be rare, in the aggregate they constitute a problem in public health. Examples of these are cystic fibrosis, sickle cell anemia and other hemoglobinopathies, hemophilia, achondroplasia and ectodermal dysplasia. They may be classified as autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive modes of inheritance.

* Chromosomal abnormalities

This group of disorders is characterized by abnormalities of the number and/or structure of chromosomes. Virtually all chromosomes are now associated with recognizable syndromes. Humans have 23 pairs of chromosomes, or 46 chromosomes. Twenty-two of these pairs are the autosomes, while the remaining pair, the X and Y chromosome, are the sex chromosomes. Down syndrome is an example of this category. Most people with Down syndrome have an extra chromosome 21; the disorder is also known as trisomy 21.

* Multifactorial disorders

This group reflects the interaction of genes and the environment. Cleft lip and palate, neural tube defects such as spina bifida, hip dislocation and several congenital heart diseases are all examples of disorders in this category. Relatives may exhibit the same or similar disorders.


An increasing number of congenital and developmental anomalies of the mouth have been recognized as being associated with genetic disorders. In many cases the lips, gingiva (gums) and tongue are an integral part of the disorder, though in some they may be coincidental.

* Anomalies of the lips

Lip pits: Lip pits, usually bilateral and found on the surface of the lower lip, are associated with cleft lip and palate as symptoms of van der Woude syndrome. They represent outlets of small salivary or mucous glands. On some occasions the pit may be single and located near or on the mid-line. Van der Woude syndrome is autosomal dominant, so if one parent is affected with lower-lip pits, the risk of transmitting the disorder is 50 percent for each pregnancy.

Lip pigmentation: Peutz-Jeghers syndrome is a form of hereditary intestinal polyposis that may lead to colon cancer and is characterized by mucocutaneous (freckle-like) pigmentation of the lips and inner cheeks. …

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