I.B.I.S.
International Birth Defects Information Systems
International Birth Defects Information Systems
Mission: Amelioration and Prevention of Birth Defects and Genetic Disorders
Support Groups
Showing 1 to 10 out of 214 rows.
- Accutane - Isotretinoin
Accutane and Other Retinoids
March of Dimes Birth Defects Foundation
Birth defects associated with Accutane include: hydrocephaly (enlargement of the fluid-filled spaces in the brain), microcephaly (small head), mental retardation, ear and eye abnormalities, cleft lip and palate and other facial abnormalities and heart defects. There also is a high risk of miscarriage for pregnant women taking the drug ... Soriatane (actiretin) is another retinoid marketed by Roche ... Like Accutane, this drug can cause serious birth defects ... As with Accutane, Roche recommends a pregnancy test before starting the drug and use of two reliable forms of contraception during treatment ... Soriatane replaces (and is closely related to) another psoriasis drug called Tegison (etretinate) ...
- Adrenal Hyperplasia
Congenital Adrenal Hyperplasia: A Handbook For Parents
Jose L. Gonzalez, M.D, et al, Texas Department of Health
Your baby had a blood test shortly after birth to look for a number of inherited medical conditions which require early treatment. The screening test does not prove that your baby has CAH. More tests will be needed to prove its presence. It is important to have your child tested as soon as possible. Untreated CAH can result in serious illness and, in some cases, death ... Treatment: CAH is never "outgrown"; treatment is required for life ... Psychological Consideration: If your baby was born with abnormalities of the genitals you may wish to tell family and friends that your baby has a minor defect which will delay the doctors in being able to confirm the sex of the child for a few days. Reassure them that the baby is healthy and normal in every other way. You may wish to add that your baby has a hormone imbalance that will require treatment. Issues relating to sexuality may cause concerns which are difficult to talk about. Be reassured that the little girl with CAH will grow up to function as a normal woman. Likewise, be reassured that the little boy with CAH who is taking medication to prevent excessive adrenal male-type hormone is still making plenty of male hormone! ...
- Adrenal Hyperplasia
Congenital Adrenal Hyperplasia: Not Really a Zebra
Michael A. Deaton, PH.D., M.D, et al, American Family Physician, March 1, 1999
Once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis ... Even mild congenital adrenal hyperplasia can result in life-threatening sinus or pulmonary infections, orthostatic syncope, shortened stature and severe acne. Women with mild congenital adrenal hyperplasia often present with hirsutism, oligomenorrhea or infertility ... Classical congenital adrenal hyperplasia is rare, affecting only one in 14,000 patients, but mild forms of the disease may occur in one of every 100 to 1,000 persons ... Signs and Symptoms Suggesting Mild Congenital Adrenal Hyperplasia ... Children: Moderate to severe recurrent sinus or pulmonary infections; Severe acne; Hyperpigmentation, especially of the genitalia; Tall for age; Early onset of puberty. Adults : Childhood history as defined above; Syncope or near-syncope; Shortened stature compared with either parent; Hypotension (21-hydroxylase deficiency); Hypertension (11-ß hydroxylase deficiency). Women : Clitorimegaly; Poorly developed labia; Hirsutism; Infertility; Polycystic ovary syndrome ...
- Alagille Watson Syndrome
Alagille Syndrome
American Liver Foundation, March 14, 2007
Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. However, other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants … Progressive loss of the bile ducts within the liver over … Narrowing of bile ducts outside the liver … Symptoms of the illness are jaundice, pale, loose stools and poor growth within the first three months … Other features include abnormalities in the cardiovascular system, the spinal column, the eye and the kidneys. Narrowing of the blood vessel connecting the heart to the lungs (pulmonary artery) leads to extra heart sounds but rarely problems in heart function … More than 90 percent of children with Alagille Syndrome have an unusual abnormality of the eyes. An extra, circular line of the surface of the eye requires specialized eye examination to detect and does not lead to any disturbances in vision. In addition, some children have various abnormalities in their kidneys that may lead to minor changes in kidney function ...
- Alagille Watson Syndrome
The Alagille Syndrome Alliance
Alagille Syndrome Alliance
The Alagille Syndrome Alliance is a national support network … The purpose of the Alagille Syndrome Alliance is: To serve as the main networking resource and source of information for people with Alagille Syndrome, their families, friends, and health care providers.
- Aniridia Syndrome
Aniridia factsheet
RNIB - Royal National Institute for the Blind, May 17, 2007
Aniridia is a rare congenital defect causing incomplete formation of the iris. This can cause loss of vision, usually affecting both eyes. In Aniridia, although not entirely absent, all that remains of the iris is a thick collar of tissue around its outer edge and the muscles which open and close the pupil are entirely missing. The appearance of a "black iris" is the result of the really enormous pupil ... There is no single cause ... Falls roughly into two groups, one of which is hereditary and the other of unknown origin ... Aniridia can result from autosomal dominant or autosomal recessive inheritance or may occur on its own. Autosomal dominant individuals in this group will be unlikely to have additional health or developmental problems ... Autosomal recessive inheritance carries a risk of accompanying mental handicap ... Rarely Aniridia may be associated with a Wilms' tumour of the kidney ...
- Arsenic
Arsenic
Teratology.org
Arsenic ... Cadmium ... Lead ... Mercury
- Arthrogryposis Multiplex Congenita
Avenues: A National Support Group for Arthrogryposis Multiplex Congenita
Avenues, 2006
A directory of families interested in corresponding with others … A directory of therapists with a special interest in AMC … An annotated bibliography on AMC … A pamphlet on AMC: "What It Is and How It Is Treated" … A Spanish Version of the AMC pamphlet" … A list of Support Groups for Arthrogryposis …
- Arthrogryposis Multiplex Congenita
What is Arthrogryposis?
Avenues, 2006
"Arthrogryposis" (Arthrogryposis Multiplex Congenita) is a term describing the presence of multiple joint contractures at birth. A contracture is a limitation in the range of motion of a joint … What causes it? … Research on animals has shown that anything which prevents normal joint movement before birth can result in joint contractures. The joint itself may be normal …
- Arthrogryposis Multiplex Congenita
Arthrogryposis Clinics
Avenues, 2006
A.I. DuPont Institute … Wilmington, DE 19899 … MOTT Children's Hospital … Ann Arbor, MI 48109-0042 … Shriner's Hospital … Minneapolis, MN 55414 … Shriners Hospital for Children … Houston, TX 77030 …
Showing 1 to 10 out of 214 rows.
