Genetic Mouth Diseases

Genetic disorders are caused by malformations in the body's genetic material that defines our physical characteristics. Genetic researchers have identified approximately 4,000 genetic disorders and are typically rare, reports KidsHealth.org. Several of the diseases cause deformities of the mouth.

  1. Amelogenesis Imperfecta

    • Teeth grow without properly-formed enamel, giving them a yellow appearance. Without the protective enamel coating, the teeth are malleable and easily damaged. Amelogenesis imperfecta typically occurs when at least one parent has the disease. Dentists treat the disorder by covering the teeth with artificial crowns.

    Cornelia de Lange Syndrome

    • CDLS occurs in only one in 10,000 births, according to the CDLS-USA Foundation. Patients with CDLS typically have down-turned lips that resemble a frown and often have a cleft palate (a groove on the roof of the mouth). CDLS also causes other symptoms such as small head size, an upturned nose, excessive body hair, heart defects and moderate to severe mental retardation.

    Cayler Syndrome

    • Cayler Syndrome causes malformations of or the complete absence of the muscles that allow movement of the lips, making it difficult to pucker the lips or move them outward. The disease may also result in an abnormally small jawbone. Cayler Syndrome also causes heart defects and the possibility of mental retardation.

    Crouzon Syndrome

    • Crouzon Syndrome affects approximately 16 in 1,000,000 newborns, according to the U.S. National Library of Medicine. The disease causes deformities in the upper jaw and malformations of the teeth and cleft palates. Other signs of the disorder are bulging eyes that do not point in the same direction and hearing problems.

    Dentinogenesis Imperfecta

    • Dentinogenesis imperfecta (DI) is similar to Amelogenesis imperfecta in that it causes yellow, weak teeth. However, patients with DI are more likely to suffer from tooth loss. The disease is also frequently accompanied by hearing loss. DI affects approximately one in every 6,000 to 8,000 people, according to the U.S. National Library of Medicine.

    Treacher Collins Syndrome

    • Occurring in one of every 50,000 people, Treacher Collins syndrome causes under-development of the bones in the face, according to the U.S. National Library of Medicine. The disease results in a very small lower jaw bone and may also cause a cleft palate. Patients with Treacher Collins are sometimes born without external ears or with hearing loss and/or with notches in the eyelids that may cause abnormal vision.

    Kniest Dysplasia

    • Kniest dysplasia causes short stature or dwarfism and severe problems with the joints that often lead to painful arthritis. The disease frequently causes a cleft lip and palate. Vision and hearing loss are also common. The number of cases of Kniest dysplasia are unknown as the disease is very rare, according to the U.S. National Library of Medicine.

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