Genetic Disorders Directory
Genetic disorders are diseases that are caused by abnormal DNA or mutations. These abnomalities can be small changes to a single gene or be much more complex and affect a chromosome or an entire group of chromosomes. Genetic disorders cause a long list of diseases from cystic fibrosis to being more suseptable to various types of cancers. Find out more about various genetic disorders with articles, news and more.
Unusual Cancers of Childhood Treatment (PDQ®): Treatment - Patient Information [NCI]-Other Rare Unusual Cancers of Childhood
Multiple Endocrine Neoplasia SyndromesMultiple endocrine neoplasia (MEN) syndromesMultiple endocrine neoplasia (MEN) syndromes are inherited disorders that affect the endocrine system. The endocrine system is made up of glands and cells that make hormones and release them into the blood. MEN syndromes may cause hyperplasia (the growth of too many normal cells) or tumors that may be benign (not cancer) or malignant (cancer).There are several types of MEN syndrome and each type may cause different conditions or cancers. Patients and family members with an increased risk of these syndromes should have genetic counseling and tests to check for the syndromes. The two main types of MEN syndromes are MEN1 and MEN2:MEN1 syndrome is also called Werner syndrome. This syndrome can cause tumors in the parathyroid, pancreas, and pituitary glands. A diagnosis of MEN1 syndrome is usually made when tumors are found in two or three of these glands. MEN1 syndrome may also cause tumors in the adrenal
Unusual Cancers of Childhood Treatment (PDQ®): Treatment - Health Professional Information [NCI]-Thoracic Cancers
Thoracic cancers include breast cancer, bronchial adenomas, bronchial carcinoid tumors, pleuropulmonary blastoma, esophageal tumors, thymomas, thymic carcinomas, cardiac tumors, and mesothelioma. The prognosis, diagnosis, classification, and treatment of these thoracic cancers are discussed below. It must be emphasized that these cancers are seen very infrequently in patients younger than 15 years, and most of the evidence is derived from case series.Breast CancerFibroadenomaThe most frequent breast tumor seen in children is a fibroadenoma.[2,3] These tumors can be observed and many will regress without a need for biopsy. However, rare malignant transformation leading to phyllodes tumors has been reported. Sudden rapid enlargement of a suspected fibroadenoma is an indication for needle biopsy or excision. Phyllodes tumors can be managed by wide local excision without mastectomy.Malignant breast tumorsIncidence, epidemiology, and treatmentBreast cancer has been
Unusual Cancers of Childhood Treatment (PDQ®): Treatment - Health Professional Information [NCI]-Other Rare Childhood Cancers
Other rare childhood cancers include multiple endocrine neoplasia syndromes and Carney complex, skin cancer, chordoma, and cancer of unknown primary site. The prognosis, diagnosis, classification, and treatment of these other rare childhood cancers are discussed below. It must be emphasized that these cancers are seen very infrequently in patients younger than 15 years, and most of the evidence is derived from case series.Multiple Endocrine Neoplasia (MEN) Syndromes and Carney ComplexMEN syndromes are familial disorders that are characterized by neoplastic changes that affect multiple endocrine organs. Changes may include hyperplasia, benign adenomas, and carcinomas. There are two main types of MEN syndrome: type 1 and type 2. MEN type 2 can be further subdivided into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma. (Refer to the PDQ summary on Genetics of Endocrine and Neuroendocrine Neoplasias for more
Unusual Cancers of Childhood Treatment (PDQ®): Treatment - Health Professional Information [NCI]-Head and Neck Cancers
Childhood sarcomas often occur in the head and neck area and they are described in other sections. Unusual pediatric head and neck cancers include nasopharyngeal carcinoma, esthesioneuroblastoma, thyroid tumors, oral cancer, salivary gland cancer, laryngeal carcinoma, papillomatosis, and respiratory tract carcinoma involving the NUT gene on chromosome 15. The prognosis, diagnosis, classification, and treatment of these head and neck cancers are discussed below. It must be emphasized that these cancers are seen very infrequently in patients younger than 15 years, and most of the evidence is derived from case series. Nasopharyngeal CarcinomaIncidenceNasopharyngeal carcinoma arises in the lining of the nasal cavity and pharynx.[2,3] This tumor accounts for about one-third of all cancers of the upper airways. Nasopharyngeal carcinoma is very uncommon in children younger than 10 years
Are You Destined to Get Your Parents' Illnesses?
With conditions like cancer, Alzheimer's, diabetes, and heart disease, your genes aren't always destiny. You can likely overcome your heredity and stay disease-free by making smarter health decisions.
Crusade for a Cure
Battling a rare genetic disorder called pseudoxanthoma elasticum, or PXE.
Know Your Genetic Risk
Knowing your family's health history can help you avoid health problems yourself.
Battling Nature (Part 1): Genetic Possibilities
Learn more about the field of genetics and the future possibility of targeting certain genes to slow the aging process.
Slideshows & Images
X-Ray and MRI of Legg-Calve-Perthes Disease
Courtesy of Paul Traughber, M.D., Boise, Idaho.Figure 1 is an X - ray of a child's normal hipbone and a broken (fractured) hipbone from poor blood flow because of Legg - Calve - Perthes disease (LCPD). Figure 2 is an MRI of a child's normal hipbone with fat in the growth center and an abnormal hipbone where the fat has been lost because of LCPD. ...