Campomelic Dysplasia Health Article

Diagnosis

The diagnosis of campomelic dysplasia is based on the presence of certain clinical features. Some of the bony abnormalities are more obvious on x ray. The features that suggest a diagnosis of campomelic dysplasia include significantly short stature present from birth, small shoulder blades, 11 pairs of ribs instead of 12, small chest size, bowed legs, and a dimple on the leg below the knee.

The diagnosis of campomelic dysplasia can be confirmed through genetic testing, which requires a blood sample from the affected individual. The genetic test involves identifying the specific alteration in the SOX9 gene. Parents of an affected child may seek testing for campomelic dysplasia in future pregnancies. This can be performed on the developing baby before birth through amniocentesis or chorionic villus sampling if an alteration in the SOX9 gene is identified in the previously affected individual. Prenatal testing should only be considered after the gene alteration has been confirmed in the affected individual and the couple has been counseled regarding the risks of recurrence.

Treatment and management

Campomelic dysplasia is associated with a significant risk for death in the newborn period due to the small chest and small lungs. There is no effective treatment to expand the size of the chest. Those who survive into early infancy have feeding problems and often have difficulty breathing. An occupational therapist may be able to assist with the feeding issues. Breathing problems may necessitate that the child be placed on oxygen.

Some individuals with campomelic dysplasia have significant twisting and bending of their spine (kyphoscoliosis) which can interfere with breathing. A bone specialist (orthopedist) should be consulted for advice on potential treatments such as bracing or surgery. An orthopedist should also be consulted regarding the other bony problems such as clubfoot and bowed legs. Individuals with campomelic dysplasia should also have their hearing assessed and their heart examined because of the increased risk for hearing loss and heart defects, respectively.

In females with campomelic dysplasia who have a Y chromosome, the gonads (the organs that later become either testes or ovaries during fetal development) do not develop properly into ovaries. It is generally recommended that the they be surgically removed because there is an increased chance for tumors to occur in the gonads when they do not develop properly.

Very few individuals with campomelic dysplasia live beyond the newborn period but most who do are of normal intelligence. During the school years, it may be necessary to make some changes (such as providing the individual with a step-stool in the bathroom) to foster independence. For some, meeting other individuals of short stature may be beneficial. Groups, such as the Little People of America (LPA), serve as a source of information and offer opportunities to meet other people facing similar challenges. Individuals with campomelic dysplasia and their families may benefit from genetic counseling, which can provide them with further information on the condition itself and recurrence risks for future pregnancies.

Prognosis

Campomelic dysplasia is associated with a significant risk for death in the newborn period. Most newborns die during the first few hours after birth from breathing problems due to the small chest size and small, underdeveloped lungs. A few individuals with campomelic dysplasia have lived to be adults.

ORGANIZATIONS

Greenberg Center for Skeletal Dysplasias. 600 North Wolfe St., Blalock 1012C, Baltimore, MD 21287-4922. (410) 614-0977. <http://www.med.jhu.edu/Greenberg.Center/Greenbrg.htm>.

Johns Hopkins University—McKusick Nathans Institute of Genetic Medicine 600 North Wolfe St., Blalock 1008, Baltimore, MD 21287-4922. (410) 955-3071.

Little People of America, Inc. National Headquarters, PO Box 745, Lubbock, TX 79408. (806) 737-8186 or (888) LPA-2001. lpadatabase@juno.com. <http://www.lpaonline.org>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

"Campomelic Dysplasia." OMIM—Online Mendelian Inheritance in Man. <http://www3.ncbi.nlm.nih.gov/>. (March 9, 2001).

Nada Quercia, MS