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Fragile X Syndrome

I have read that there are distinct physical/facial features those who have it (e.g. elongated face). What are the other symptoms (physical, mental, behavioral) can be observed to those people affected by it?

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Answer #1

In addition to moderate to severe mental retardation, other characteristics of individuals with fragile X syndrome may include large ears, large testes (macroorchidism), large jaw (prognathism), speech delays, prominent forehead, double-jointedness, autistic symptoms and occasional self-mutilation.

The face is typically long and narrow, and a high arched palate, large ears, otitis media, strabismus, and dental problems are present.

Other common characteristics include hyperextensible joints, hypotonia, and heart problems including mitral valve prolapse. In males, abnormally large testes are a distinctive feature.

In young children, delayed motor development, hyperactivity, behavioral problems, toe walking, and occasional seizures can occur. Autism is suggested by poor eye contact, hand flapping, hand biting, and self-stimulating behaviors.

Poor sensory skills and mathematical ability are sometimes found in conjunction with good reading skills. Speech and language problems can include echolia, perseveration, poor language content, and cluttering (dropping of letters or syllables when speaking).

Affected girls tend to be shy and socially withdrawn, and to have particular difficulty with mathematics.

http://www.healthscout.com/ency/68/599/main.html

Here’s another website that had tons of info on this topic:

http://www.medicinenet.com/fragile_x_syndrome/page6.htm

Answer #2

thanks mandyloo! =)

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