Fragile X Syndrome (FXS) malady

MedlinePlus:³⁰ Fragile x syndrome is the most common form of inherited developmental disability. a problem with a specific gene causes the disease. normally, the gene makes a protein you need for brain development. but the problem causes a person to make little or none of the protein. this causes 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 intelligence problems, ranging from learning disabilities to severe intellectual disabilities social and emotional problems, such as aggression in boys or shyness in girls speech and language problems, especially in boys a genetic blood test can diagnose fragile x. there is no cure. you can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. getting treatment early can help. nih: national institute of child health and human development

MalaCards: Fragile X Syndrome, also known as fraxa syndrome, is related to mental retardation and premature ovarian failure, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways is Neuroscience. The compounds hydrofluoric acid and folate have been mentioned in the context of this disorder. Affiliated tissues include brain, brain and whole blood, and related mouse phenotypes are endocrine/exocrine gland and integument.

NIH Rare Diseases:³⁹ Fragile x syndrome is a genetic condition involving changes in part of the x chromosome. this condition causes a range of developmental problems including learning disabilities and cognitive impairment. it is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.  fragile x syndrome is caused by a change in the fmr1 gene. fragile x syndrome is inherited in an x-linked dominant pattern.

Genetics Home Reference:²⁰ Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

Wikipedia:⁵⁹ Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante\'s syndrome (more commonly used in South... more...

OMIM:

External Ids:

Disease Ontology8 DOID:14261 MeSH31 C531683, D005600 ICD9CM25 759.83 OMIM43 300624 NCIt36 C84717 SNOMED-CT52 613003, 390007001

MESH via Orphanet32 D005600 ICD10 via Orphanet24 Q99.2 SNOMED-CT via Orphanet53 254287005, 613003 UMLS via Orphanet57 C0016667, C0751156 UMLS56 C0016667

Clinical features from OMIM:

Symptoms:

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macrocephaly/macrocrania/megalocephaly/megacephaly frontal bossing/prominent forehead cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia intellectual deficit/mental/psychomotor retardation/learning disability chronic/relapsing otitis hypotonia prognathism/prognathia macroorchidism/macrotestes flat foot seizures/epilepsy/absences/spasms/status epilepticus gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia humour troubles/anxiety/depression/apathy/euphoria/irritability nasal congestion/sinusitis/rhinitis/rhinorrhea

hyperextensible joints/articular hyperlaxity strabismus/squint hyperactivity/attention deficit autism/autistic disoders prominent/bat ears psychosis/schizophrenia/maniac disorder x-linked dominant inheritance mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly narrow face aortic root dilatation/dilation/aneurysm long face auto-aggressivity/auto-mutilation fragile chromosome x site