Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | German | Ukrainian |

The behavior features that call attention include: hand flapping, poor eye contact, tantrums and avoidance of being touched. The diagnosis of Fragile-X Syndrome requires special chromosome and DNA studies.

Some key features...

Males are more severely affected than females

The head may tend to be large

The face may become long and narrow

The ears may become prominent

The joints may be somewhat lax

The arch of the feet may tend to be flat

The testicles may become quite large (macroorchidism)

Females with this gene have a strong chance to have affected children

Males may have autistic-like behavior

Our team recommends...

Consult a Medical Geneticist whenever mental retardation (MR) occurs more than once in a family

Consult a Medical Geneticist if the MR child has unusual features (unusual face, ears, hands, etc.)

Consult a Medical Geneticist if the MR child has unusual growth features (autism, failure to thrive, large testicles, large tongue, etc.)

Laboratory studies with a Medical Geneticist coordinating who should perform and interpret tests.

Relatives of patients with Fragile-X should consider genetic counseling and chromosome-DNA testing.

Fragile X Syndrome
J Tarleton and RA Saul, GeneClinics, March 7, 2008
Visitor Comments [for Professionals mainly]
" ... characterized by moderate mental retardation in affected males and mild mental retardation in affected females ... all mothers of a child with an FMR1 gene full mutation (expansions >230 trinucletide repeats) are known to be carries of an FMR1 gene expandsion. They and their family members are at increased risk to have children with fragile X syndrome and should be offered DNA-based testing and recurrence risk counseling based on the results. This counseling is extremely complex and should be provided by a knowledgeable genetic professional. Prenatal testing is possible though analysis ... should only be undertaken after carrier status has been ... (1998)."

Fragile Site Mental Retardation 1 - FMR1
Victor A. McKusick, OMIM, Johns Hopkins University, November 11, 2007
Visitor Comments [for Professionals mainly]
Comprehensive authoritative review mostly for Medical Geneticists.

Delayed Diagnosis of Fragile X Syndrome - United States, 1990-1999
MMWR, Centers for Disease Control and Prevention, August 23, 2002
Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, affecting approximately 50,000 persons in the United States ... FXS occurs when a mutation on the X chromosome is passed from mother to child. Preliminary data suggest that children affected by FXS experience a delay in diagnosis, a pattern common to other single-gene disorders... This report ... indicate that approximately half of the families did not learn the diagnosis for more than a year after first concerns about their child's development or behavior, and half reported having subsequent pregnancies before FXS was diagnosed in their first child ... few children are identified by routine surveillance systems for birth defects and developmental disabilities...

Fragile X Syndrome and Speech Problems
American Speech-Language-Hearing Association - ASHA.
" ... Delayed speech and language development is often the first indication ... "

Fragile X Syndrome
Stephen M. Edelson, Ph.D., Center for the Study of Autism, Salem, Oregon.
Martin - Bell Syndrome ... 15% to 20% of those with Fragile X Syndrome exhibit autistic-type behaviors, such as poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills. Behavior problems and speech/language delay are common features of Fragile X Syndrome ... also have a number of recognizable physical features, including a high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities. Although most individuals with Fragile X syndrome have a characteristic 'look' (long face and large ears), there are some who do not have typical features ...

The National Fragile X Foundation (since 1984)
The National Fragile X Foundation, December 8, 2006
Well organized and illustrated 12 pages - a good resource.

FRAXA Research Foundation Inc.
" ... run by parents ... founded because fragile X research is drastically underfunded ... "

Fragile X Association of Southern California
" ... formed to promote public awareness ..."

Health Supervision for Children With Fragile X Syndrome
Committee on Genetics, American Academy of Pediatrics, August 1996
This set of guidelines is designed to assist pediatricians in caring for children with fragile X syndrome confirmed by DNA analysis (Table). Occasionally pediatricians are called on to advise a pregnant woman who has been informed of a prenatal diagnosis of fragile X syndrome. Therefore, guidelines are also offered for this situation ...

FRAXA Research Foundation
Supporting research aimed at treatment of Fragile X Syndrome ...

Fragile X Syndrome
National Institute of Child Health & Human Development, September 07, 2006

frax Online
Visitor Comments [German]
Informationen zum fraX-Syndrom sind leider noch recht schwer zu finden (besonders in deutsch) ...

Fragile X Syndrome
I.B.I.S. Birth Defects, 2008
Visitor Comments [Ukrainian]
A fact sheet for professionals in Ukrainian
Synonyms ... Clinical picture ... Etilogy ... Pathogenesis ... Associated symptoms ... Diagnosis ... Folic acid treatment ...

________________________________________________________________________________________________

Last Updated: 2008/3/19

________________________________________________________________________________________________