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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fragile X syndrome

Información en español

Other Names for this Disease

  • Fra(X) syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
  • Martin-Bell syndrome
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Symptoms

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What are the symptoms of Fragile X syndrome?

Fragile X syndrome is characterized by developmental problems, including delayed development of speech and language, and mild to moderate intellectual disability. Usually, males are more severely affected than females. Additional features may include anxiety and hyperactive behavior such as fidgeting or impulsive actions, attention deficit disorder (ADD), features of autism spectrum disorders that affect communication and social interaction, and seizures. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features 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: 6/5/2013

¿Cuáles son las señales y síntomas que se presentan en una persona con la premutación para el síndrome X frágil?

La mayoría de personas con premutaciones son intelectualmente normales, pero en algunos casos las personas pueden presentar niveles bajos de la proteína FMRP y presentar una forma leve des síndrome X frágil. Los signos y síntomas pueden incluir: orejas prominentes, problemas emocionales (ansiedad o depresión), algún nivel de icapacidad o desorden del comportamiento o aprendizaje y comportamiento parecido al autismo. [2] Un 20% de las mujeres con premutación desarrollan falla en los ovarios y menopausia prematura. [3] Hombres, como mujeres, con una premutaci὚n tienen un riesgo más alto que la población en general de desarrollar el síndrome de temblor y ataxia asociado al síndrome del cromosoma X frágil (FXTAS, por sus siglas en inglés). Este trastorno es caracterizado por ataxia, temblor, pérdida de memoria, neuropatía periférica, alteraciones mentales y del comportamiento. [4]
Last updated: 3/21/2014

References
  1. Fragile X syndrome. Genetics Home Reference (GHR). April 2012; http://www.ghr.nlm.nih.gov/condition/fragile-x-syndrome. Accessed 6/5/2013.
  2. Fragile X Syndrome. Genetics Home Reference. May 2007; http://ghr.nlm.nih.gov/condition/fragile-x-syndrome. Accessed 2/8/2010.
  3. Fragile X Syndrome. March of Dimes. April 2010; http://www.marchofdimes.com/Baby/birthdefects_fragilex.html. Accessed 2/8/2010.
  4. Saul RA, Tarleton JC. GeneReviews. April 26, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1384/. Accessed 9/10/2013.


Other Names for this Disease
  • Fra(X) syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
  • Martin-Bell 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.