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Fragile X syndrome - Symptom

Alternative Names

Martin-Bell syndrome; Marker X syndrome

Symptoms:

Behavior problems associated with fragile X syndrome include:

Physical signs may include:

  • Flat feet
  • Flexible joints and low muscle tone
  • Large body size
  • Large forehead or ears with a prominent jaw
  • Long face
  • Soft skin

Some of these problems are present at birth, while others may not develop until after puberty.

Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.

Signs and tests:

There are very few outward signs of Fragile X syndrome in babies. Some signs may include:

  • Large head circumference in babies
  • Mental retardation
  • Large testicles after the start of puberty
  • Subtle differences in face features

In females, excess shyness may be the only sign of the disorder.

Genetic testing can diagnose this disease.

  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Wise PH. Developmental disabilities and chronic illness. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 38.
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