2014 ICD-9-CM Diagnosis Code 759.83
Fragile X syndrome
- ICD-9-CM 759.83 will be replaced by an equivalent ICD-10-CM code (or codes) when the United States transitions from ICD-9-CM to ICD-10-CM on October 1, 2015.
- ICD-9-CM 759.83 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
- A condition characterized genotypically by mutation of the distal end of the long arm of the x chromosome (at gene loci fraxa or fraxe) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation of fraxa. (from menkes, textbook of child neurology, 5th ed, p226)
- A genetic syndrome caused by mutations in the fmr1 gene which is responsible for the expression of the fragile x mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
- An inherited disease characterized by the presence of a fragile site in the long arm of chromosome x. It is a common cause of mental retardation, second only in frequency to the down syndrome (trisomy 21). The expression varies with mental retardation, macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, highly arched narrow palate, and joint laxity as the most common characteristics. Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the renpenning but not martin-bell syndrome. Major characteristics of the martin-bell syndrome include: mental retardation with speech and behavioral disorders; connective tissue dysplasia; square facies with midfacial hypoplasia; slightly below normal height without intra- uterine growth retardation; average or above average head circumference; large and frequently anteverted ears; prominent forehead and supraorbital ridges; large nose; prominent mandible which becomes apparent during adolescence; joint laxity; minor limb anomalies; dermatoglyphic abnormalities; and seizures.
- Fragile x syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of fragile x. People with only a small change in the gene might not show any signs of fragile x. People with bigger changes can have severe symptoms. These might include
fragile x has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for fragile x can help. nih: national institute of child health and human development
- intelligence problems, ranging from learning disabilities to severe mental retardation
- social and emotional problems, such as aggression in boys or shyness in girls
- speech and language problems, especially in boys
- X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny.
Convert to ICD-10-CM
converts directly to:
- 2014 ICD-10-CM Q99.2 Fragile X chromosome
ICD-9-CM Volume 2 Index
entries containing back-references to 759.83
- Fragile X syndrome 759.83
- Syndrome - see also Disease
- fragile X 759.83