Preferred Name

Fragile X syndrome

Synonyms

Marker X syndrome

FRAXA syndrome

Escalante's syndrome

Martin-Bell syndrome

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/)

ID

http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090601

Obsolete

true

Contributor

Maryann Martone

createdDate

June 20, 2009

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/)

label

Fragile X syndrome

owl:deprecated

true

prefixIRI

NLX:dys_20090601

prefLabel

Fragile X syndrome

synonym

Martin-Bell syndrome

Escalante's syndrome

FRAXA syndrome

Marker X syndrome

subClassOf

http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090501

http://purl.obolibrary.org/obo/DOID_0080009

http://purl.obolibrary.org/obo/DOID_225

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