Genetic disorders are caused by genetic abnormalities, such as mutations or an extra chromosome. These changes can affect a region of the long arm (q) of chromosome 7 that contains the FOXP2 gene, or a region of the short arm (p) of chromosome 7 that contains the GLI3 gene. Common genetic disorders include cystic fibrosis, Huntington's disease, cleft lip and cleft palate, speech/language disorder related to FOXP2 syndrome, Greig's cephalopolysyndactyly syndrome, Russell-Silver syndrome, Smith-Magenis syndrome, and Angelman syndrome. Cystic fibrosis is an inherited disorder that causes thick, sticky mucus to build up in the respiratory, digestive and reproductive systems.
Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems and loss of thinking ability. Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly during pregnancy. Speech/language disorder related to FOXP2 syndrome is a rare condition that affects speech and language development starting in early childhood. Greig's cephalopolysyndactyly syndrome is a disorder that affects the development of the limbs, head and face.
Russell-Silver syndrome is a rare condition characterized by slow growth, distinctive facial features, delayed development, speech and language problems, and learning problems. Smith-Magenis syndrome is caused by the removal of genetic material from chromosome 17. Angelman syndrome is a genetic disorder caused by the loss of a gene located on chromosome 15. If you or a loved one has a genetic disorder, it's important to seek care from an experienced specialist. Genetic counseling can help determine if genetic testing is right for you. DNA testing for genetic disorders can be an important part of starting a family.
It can be difficult to balance time between work, home and caring for a child who has a genetic disorder. There is evidence that challenging or problematic behaviors are more common in certain genetic syndromes than would be expected depending on the person's level of intellectual disability (ID) and other characteristics, such as communication difficulties. To understand the causes of genetic disorders, it's helpful to learn more about how genes and DNA work. Although self-harm can be sensitive to many types of rewards, in some cases people with Smith-Magenis have been shown to be more likely in conditions with low levels of adult attention; it has been suggested that a genetic predisposition to enjoy social contact with other people may increase the chances of SIB accessing care. The chromosomal abnormalities responsible for Saethre-Chotzen syndrome include translocations of genetic material between chromosome 7 and another chromosome, the reorganization of genetic material within chromosome 7 (an inversion), or the deletion of a segment of chromosome 7.As with most genetic syndromes, there are common characteristics shared by people diagnosed with Prader-Willi Syndrome. If you have a family history of a genetic disorder or are considering starting a family, it's important to seek care from an experienced specialist. With proper diagnosis and treatment, many people with genetic disorders can lead healthy lives.