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Inherited Disorders and Birth Defects

Looking for Conditions

06/05/2010

Question:

My Granddaughter is 3 yrs old. From the time she was around 2 mnths old I could tell something looked different about her. When her mom would put her in a swing her headed automatically would tilt to the left. She had clearly facial abnormalties that only showed better as time went by. She has far apart eyes, that outersides of both eyes drooped down lower than the inner eye. She couldn`t crawl or hold her bottle, even at the age of 17 mos. She didn`t start walking til 2 1/2 and her legs look like they bow out at the knee joints and her feet look like they turn out. She still walks very unsteadily. She can`t hold things normally and her wrist seems as if she turns them in alot. She does not talk,though she trys and can somewhat say "Daddy, mama, and eat,
 but you really can`t understand her clearly. She has facial bones that look abnormal and high forehead. My son and his ex-wife took her to Augusta and the doctors wanted to do genetic testing on them and my granddaughter, but the mother hasn`t taken her back there. What diseases or conditions can cause this many abnormalties? She looks like she may have a touch of downs syndrome but not fully downs. Her mother said they said it wasn`t downs,and her pediatrician said he thought she had a genetic disorder where the parents blood weren`t compatiable.  He never said what the condition was he thought she had,but he did say she have autism along with it. Any help to conditions that could be the reasons for my granddaughter`s condition would be appreciated. Then we will know where and who to seek help from in getting a diagnosis. If any of these abnormalities strike a certain condition so we can read up on it and see if she fits that category would help us get her the proper treatment.

Answer:

All of the features you describe can be found in numerous genetic disorders and there are a number of different ways in which these can happen. Thus there is no way to tell you what condition your granddaughter may have. She would need to be evaluated by a geneticist.

When geneticists see a child with many different abnormalities and developmental problems such as you describe in your granddaughter, they usually recommend genetic testing to see if they can find the cause. Chromosome problems such as missing parts of chromosomes or having extra whole chromosomes or parts of chromosomes almost always lead to birth defects and development problems. Down syndrome is just one chromosome problem, but there are many more. Having a change (mutation) in a gene sometimes causes a genetic syndrome that has multiple birth defects, facial abnormalities and development problems.

The best way to find out what condition your granddaughter may have is to have her seen by a geneticist. He or she would do a careful physical exam looking for not only the obvious abnormalities, but subtle ones as well. A geneticist is a specialist with training in recognizing patterns of abnormalities that may suggest a specific genetic syndrome. The geneticist would also recommend specific genetic testing.

I would recommend that you talk to your son about having your granddaughter see a geneticist to talk about what might be the cause of her problems. Your granddaughter’s pediatrician may be able to recommend someone. Your son can also look for a genetics clinic near him at the American College of Medical Genetics website.

Related Resources:

American College of Medical Genetics

For more information:

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University