Do I have X-linked Genetic Diseases?
More information about symptoms of X-linked Genetic Diseases and related conditions:
Medical Books Excerpts Excerpts of published medical book chapters related to X-linked Genetic Diseases are available from published medical books for more detailed information about X-linked Genetic Diseases.
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the symptoms of X-linked Genetic Diseases.
Typically, the infant with X-linked hypogammaglobulinemia is asymptomatic until age 6 months, when transplacental maternal immunoglobulins that provided immunity have been depleted. He then develops recurrent bacterial otitis media, pneumonia, dermatitis, bronchitis, and meningitis — usually caused by pneumococci, streptococci, Haemophilus influenzae, or other gram-negative organisms. Purulent conjunctivitis, abnormal dental caries, and polyarthritis resembling rheumatoid arthritis may also occur. Severe malabsorption associated with infestation by Giardia lamblia may retard development. Despite recurrent infections, lymphadenopathy and splenomegaly are usually absent.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Small children may have relatively few identifiable physical characteristics; behavioral or learning difficulties may be the initial presenting features.
Many adult male patients display a prominent jaw and forehead and a head circumference exceeding the 90th percentile. A long, narrow face with long or large ears that may be posteriorly rotated can be a helpful finding at all ages. Connective tissue abnormalities — including hyperextension of the fingers, a floppy mitral valve (in 80% of adults), and mild to severe pectus excavatum — have also been reported. Unusually large testes, found in most affected males after puberty, are an important identifying factor of the disorder.
The average IQ of a person with fragile X syndrome is comparable to that of a person with Down syndrome; however, the behavioral characteristics are quite different. Hyperactivity, speech difficulties, language delay, and autistic-like behaviors may be attributed to other disorders, such as attention deficit hyperactivity disorder, and thus delay the diagnosis.
Approximately 50% of females with the FMR1 full mutation will have clinical symptoms, although the degree of severity and number of symptoms vary widely among females with fragile X syndrome. Those who are symptomatic typically have a much milder clinical presentation than males due to having an unaffected X chromosome in addition to the one with an FMR1 full mutation. Some degree of cognitive impairment is usually present in symptomatic females. Learning disabilities — math difficulties, language deficits, and attentional problems — are most common. Some females can have IQ scores in the mental retardation range. Although affected females can have autistic-like features, excessive shyness or social anxiety are the more common behavioral symptoms. Prominent ears and the connective tissue manifestations may be as significant as in males. Although males with the FMR1 permutation are asymptomatic, some female carriers of an FMR1 premutation can have associated symptoms. These symptoms include significantly earlier menopause and a low normal performance IQ.
Source: Professional Guide to Diseases (Eighth Edition), 2005
These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
The symptom information on this page attempts to provide a list of some possible signs and symptoms of X-linked Genetic Diseases. This signs and symptoms information for X-linked Genetic Diseases has been gathered from various sources, may not be fully accurate, and may not be the full list of X-linked Genetic Diseases signs or X-linked Genetic Diseases symptoms. Furthermore, signs and symptoms of X-linked Genetic Diseases may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed X-linked Genetic Diseases symptoms.
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