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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fragile X syndrome

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Other Names for this Disease
  • Fra(X) syndrome
  • FraX syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Fragile X syndrome?

Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty.[1]
Last updated: 1/29/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cognitive impairment 90%
Joint hypermobility 90%
Macroorchidism 90%
Neurological speech impairment 90%
Otitis media 90%
Pes planus 90%
Abnormality of the pinna 50%
Attention deficit hyperactivity disorder 50%
Frontal bossing 50%
Intellectual disability, moderate 50%
Long face 50%
Macrocephaly 50%
Mandibular prognathia 50%
Muscular hypotonia 50%
Narrow face 50%
Sinusitis 50%
Abnormality of the mitral valve 7.5%
Autism 7.5%
Cerebral cortical atrophy 7.5%
Dilatation of the ascending aorta 7.5%
Seizures 7.5%
Self-injurious behavior 7.5%
Strabismus 7.5%
Abnormal head movements -
Coarse facial features -
Congenital macroorchidism -
Folate-dependent fragile site at Xq28 -
Hyperactivity -
Incomplete penetrance -
Joint laxity -
Large forehead -
Macroorchidism, postpubertal -
Macrotia -
Mitral valve prolapse -
Pectus excavatum -
Periventricular gray matter heterotopia -
Poor eye contact -
Scoliosis -
X-linked dominant inheritance -

Last updated: 5/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Fragile X syndrome. Genetics Home Reference. April 2012; http://www.ghr.nlm.nih.gov/condition/fragile-x-syndrome.


Other Names for this Disease
  • Fra(X) syndrome
  • FraX syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.