Turner syndrome is a genetic condition that affects females and is caused by a missing or incomplete X chromosome.
Characteristics of Turner syndrome
Van der Woude syndrome is an inherited condition that results in an increased risk for malformations of the lips and palate. People with this disorder may be born with a split in the lip (i.e., cleft lip), a split in the roof of the mouth (i.e., cleft palate) or both. Many individuals with Van der Woude syndrome also have depressions (pits) or mounds of tissue near the center of the lower lip. As with other conditions with cleft lip and/or palate, people with Van der Woude syndrome may have missing baby and/or permanent teeth. Although there is an increased risk of delayed language development, learning disabilities, or other mild cognitive problems in children with cleft lip and/or palate from any cause, the average IQ of individuals with this condition is not significantly different from that of the general population.
Turner syndrome is a chromosomal condition and is most often diagnosed by karyotype (chromosome analysis). Most individuals have two sex chromosomes, either two X chromosomes (most females) or one X chromosome and one Y chromosome (most males). Females with Turner syndrome have a single X chromosome and are missing all or part of the second sex chromosome in all or some cells in the body.
Management of Turner syndrome requires a multidisciplinary approach to care as there are many differences in the type, severity, and number of medical problems individuals with Turner syndrome can have resulting in a difference in the treatments required. Ongoing surveillance of current or possible medical issues is important. Management includes blood draws to monitor specific chemical levels in the blood (like hormone levels and indicators of kidney function), imaging to view the heart and kidneys, monitoring of blood pressure, and appropriate educational supports and evaluations. Hormone replacement therapy (e.g., estrogen to promote normal sexual development; growth hormone to treat short stature) is often recommended.
Although infertility is common in Turner syndrome some women are able to get pregnant. For women who do become pregnant, close cardiology involvement is recommended throughout the pregnancy and shortly after delivery. Adult women with Turner syndrome should be monitored for the development of osteoporosis, high blood pressure, and diabetes.
Testing for Y chromosome material should be done in any individual with Turner syndrome. For individuals that have some Y chromosome material, abdominal ultrasounds are important since there is an increased risk of gonadoblastoma (a type of tumor) and surgery could be recommended.
Mode of inheritance
Turner syndrome is not inherited, but rather is a de novo or chance occurrence.
Risk to family members
For parents of a child with Turner syndrome, the risk to have another child with Turner syndrome is not increased. The chance of having another child with Turner syndrome has no relationship to the mother's age.
Turner Syndrome Society of the United States
Genetics Home Reference: Turner syndrome
Turner – know your body! (Editor: CH Gravholt, PhD, MD)
Medical Home Portal: Turner syndrome
Created by:Tomi Toler, MS, CGC
Edited by:Seema Jamal, MSc, LCGC