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rare diseases that you are born with, rare diseases babies are born with




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Females with these rare conditions are affected when they have an X chromosome . It is very important for babies born with IP to have an eye examination by a.. In support of Rare Disease Day on 28 February, what follows is a list of only 10 of . They also present with delayed development, skin rashes and unique . Respiratory infections are common and about half those born with this syndrome die.. Types of rare diseases. Neuroblastoma. Neuroblastoma occurs in around 100 children each year in the UK or about one in 70,000 children. Hypoplastic left heart syndrome (HLHS) Primary ciliary dyskinesia (PCD) Severe combined immunodeficiency disease (SCID) Long segment tracheal stenosis. Duchenne muscular dystrophy (DMD .. If your baby is born with a birth defect or other health condition, he may need special care at birth and later in life. You may be worried and have lots of questions.. Thirty percent of children born with a rare condition die . and their impact on patients. You can find a list of all the 7,000+ rare diseases on the Orphanet website.. Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate.. Familial dysautonomia is a rare genetic disorder of the autonomic nervous . An infant born with familial dysautonomia typically has poor sucking ability, . In addition, they may experience increased sweating and an accelerated heart rate.. Estimates suggest at least one in 60,000 newborn babies in the UK has a rare genetic disorder called Smith-Lemli-Opitz syndrome (SLOS).1 All of these babies have autism spectrum disorders and the most severely affected have birth defects, such as cleft palates, learning disabilities and life-threatening heart defects.. Affected infants are born with partial or complete fusion of the legs. . In addition, they may have an imperforate anus, a condition in which a thin covering.. Rare birth defects include: 22q11.2 deletion syndrome (DiGeorge Syndrome and Velocardiofacial syndrome) Albinism, ocular. Albinism, oculocutaneous. Anencephaly (a neural tube defect) Arnold-Chiari malformation (chiari malformation) CHARGE syndrome. Congenital adrenal hyperplasia.

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