Find information on thousands of medical conditions and prescription drugs.

Downs Syndrome

Down Syndrome encompasses a number of chromosomal differences, of which trisomy 21 (an aneuploid) is the most common, causing highly variable degrees of learning difficulties as well as physical disabilities. It is named for John Langdon Down, the British doctor who first described it in 1866. While Down Syndrome is the medically recognized term in the US, some support groups and organizations use Down's Syndrome. more...

Dandy-Walker syndrome
Darier's disease
Demyelinating disease
Dengue fever
Dental fluorosis
Dentinogenesis imperfecta
Depersonalization disorder
Dermatitis herpetiformis
Dermatographic urticaria
Desmoplastic small round...
Diabetes insipidus
Diabetes mellitus
Diabetes, insulin dependent
Diabetic angiopathy
Diabetic nephropathy
Diabetic neuropathy
Diamond Blackfan disease
Diastrophic dysplasia
Dibasic aminoaciduria 2
DiGeorge syndrome
Dilated cardiomyopathy
Dissociative amnesia
Dissociative fugue
Dissociative identity...
Dk phocomelia syndrome
Double outlet right...
Downs Syndrome
Duane syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Dupuytren's contracture
Dyskeratosis congenita
Dysplastic nevus syndrome


Down Syndrome is a naturally occurring chromosomal irregularity. The sole characteristic shared by all persons with Down Syndrome is the presence of extra genetic material associated with the 21st chromosome. The effects of that extra genetic material varies greatly from individual to individual 5, depending on the extent of the extra material, genetic background, environmental factors, and random chance.

The incidence of Down Syndrome is estimated at 1 per 800 births, making it the most common human aneuploid. The maternal age effect influences the chance of conceiving a baby with the syndrome. At age 20 to 24, it is 1/1490, while at age 40 it is 1/106, and at age 49 is 1/11. (Hook EB., 1981). Genetic counseling and genetic testing such as amniocentesis are usually offered to families who may have an increased chance of having a child with Down Syndrome. Many children with Down Syndrome are born to women under the age of 35, mainly because that is the prime reproductive ages for women.

The term 'Down Syndrome' was first used in 1961 by the editor of The Lancet 2. It was originally called mongolism or mongolian idiocy, after a perceived resemblance observed by John Langdon Down between the faces of some of his patients with Down Syndrome and the Mongoloid race. This usage is now viewed by medical professionals as offensive and medically meaningless, and is not commonly used today. Professor Jérome Lejeune proved in 1959 that Down Syndrome is a chromosomal irregularity.

While most children with Down Syndrome have a lower than average cognitive function, some have earned college degrees with accommodations, and nearly all will learn to read, write and do simple math. The common clinical features of Down Syndrome include any of a number of features that also appear in people with a standard set of chromosomes. They include a "simian crease" - a single crease across one or both palms, almond shaped eyes, shorter limbs, heart and/or gastroesophageal defects, speech impairment, and perhaps a higher than average risk of incidence of Hirschsprung's disease. Young children with Down Syndrome are also more prone to recurrent ear infections and obstructive sleep apnea.

Early educational intervention, screening for common problems such as thyroid functioning, medical treatment where indicated, a conducive family environment, vocational training, etc., can improve the overall development of children with Down Syndrome. On the one hand, Down Syndrome shows that some genetic limitations can not be overcome; on the other, it shows that education can produce excellent progress whatever the starting point. The commitment of parents, teachers and therapists, to individual children, has produced previously unexpected positive results.


[List your site here Free!]

Something's not quite right - FRAXA Research Foundation
From Pediatrics for Parents, 9/1/03 by Debra Borchert

Developmental delays and learning disabilities come in as many different forms as there are children. As we learn to understand each, it's important to have conditions correctly diagnosed so children can benefit from early intervention and therapies that will help them grow to their fullest potentials.

Fragile X Syndrome

You've probably never heard of the most common form of inherited mental impairment, fragile X syndrome. Because of its recent discovery in 1991, many doctors and pediatricians haven't heard of it either. Fragile X was the first gene uncovered in the Human Genome Project. Researchers estimate that fragile X affects approximately one in every 2,000 boys and one in every 4,000 girls. But even today, many people with fragile X are still not correctly diagnosed.

Completely Typical At Birth

Most children with fragile X appear completely normal at birth, but gradually they experience developmental delays. As the delays become evident, parents grow confused.

"My daughter still isn't sitting up by herself."

"He's still not talking at 18 months."

"He cries all the time and I feel like a bad parent."

Frustrated, parents visit specialist after specialist in hope of discovering the cause for their children's delayed development.

What's wrong?

Fragile X syndrome is a genetic condition caused by a single gene whose code is changed. The defect causes a disruption between the sending and receiving of messages required for proper brain development and functioning. When this gene is altered, it can cause developmental delays and mild to severe learning disabilities, including mental retardation.


Children may have some or none of the common characteristics, which contributes to the difficulty in diagnosing fragile X.

Some of the most common physical characteristics include:

* Eye & vision impairments

* Elongated face

* Flat feet

* High arched palate

* Hyper-extensible joints (double jointed)

* Large testicles (evident after puberty)

* Low muscle tone

* Prominent ears

Some of the most common behavioral characteristics include:

* Anxiety & shyness

* Autism & autistic-like behavior

* Hand biting & hand-flapping

* Hyperactivity & short attention spans

* Language delays

* Perseveration--repetition of the same actions or words

* Poor eye contact


Because children with fragile X have normal births, and parents are unaware of this condition, affected families may have more than one fragile X child. Since the gene can pass silently through generations, undetected, and then affect a child, anyone with undiagnosed mental retardation in his or her family should be tested.

A simple DNA blood test is available to determine if a child is affected or if a person carries the fragile X gene. A carrier is a man or woman who may show no signs of impairment, but whose gene changes are passed on to their children. One in every 260 women carries this gene and with each pregnancy she has a 50 percent chance of passing it on. The same test is used for prenatal diagnosis.


Currently, only the symptoms of fragile X can be treated. Early intervention programs involving occupational, physical, speech, and sensory integration therapies are most often helpful.


Research on treating the "root cause" of fragile X is rapidly moving forward. Only one protein is missing with the syndrome, so compared to other conditions that involve many other proteins and genes, solving the problem of fragile X syndrome is relatively simple. Research on this gene contributes to finding cures and treatments to other conditions such as Downs syndrome, autism, and Alzheimer's.

FRAXA Research Foundation

The FRAXA Research Foundation was founded to support scientific research aimed at finding a treatment and a cure for fragile X syndrome. With Nobel Prize winning scientists, Dr. James Watson and Dr. Eric Kandel, serving on the advisory board of the FRAXA Research Foundation, there is great hope for future generations.

For more information, contact: The National Fragile X Association 800-688-8765

FRAXA Research Foundation


Web site:

Debra Borchert is author of the soon-to-be-published, Fragile Secret, about her life with her three siblings who are affected by fragile X syndrome. She can be reached by e-mail at

COPYRIGHT 2003 Pediatrics for Parents, Inc.
COPYRIGHT 2004 Gale Group

Return to Downs Syndrome
Home Contact Resources Exchange Links ebay