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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
| Preferred Name | Fragile X syndrome | |
| Synonyms |
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| Definitions |
Fragile X syndrome is an X linked inherited form of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. The majority of males with fragile X syndrome will have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. In addition, males have a variety of physical and behavioral characteristics, including enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapse, flat feet, double-jointed fingers, hyperflexible joints and a variety of skeletal problems. Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli. The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the behavioral or physical features. (from http://www.fragilex.org/) |
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| ID |
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090601 |
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| Contributor |
Maryann Martone
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| createdDate |
June 20, 2009
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| definition |
Fragile X syndrome is an X linked inherited form of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. The majority of males with fragile X syndrome will have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. In addition, males have a variety of physical and behavioral characteristics, including enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapse, flat feet, double-jointed fingers, hyperflexible joints and a variety of skeletal problems. Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli. The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the behavioral or physical features. (from http://www.fragilex.org/)
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| label |
Fragile X syndrome
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| note |
Fragile X syndrome is an X linked inherited form of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. The majority of males with fragile X syndrome will have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. In addition, males have a variety of physical and behavioral characteristics, including enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapse, flat feet, double-jointed fingers, hyperflexible joints and a variety of skeletal problems. Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli. The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the behavioral or physical features. (from http://www.fragilex.org/)
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| preferred label |
Fragile X syndrome
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| prefixIRI |
NLX:dys_20090601
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| prefLabel |
Fragile X syndrome
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| synonym |
Martin-Bell syndrome Escalante's syndrome FRAXA syndrome Marker X syndrome
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