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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Thursday, March 18, 2010
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Thursday, March 18, 2010
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Inherited Disorders and Birth Defects |
Rare syndrome-Malpuech?04/18/2001 |
I have a six year old son who was born with a bilateral cleft lip and palate,developmental delay,only one kidney and he is extremely small and slight for his age.I have been told it may be Malpuech syndrome which appears only to have eight or so recorded cases in the world.I would like any info.possible please regards other cases,prognosis etc.I would appreciate any information you may have.
Malpuech syndrome is a rare inherited disorder that usually includes mental retardation, delayed growth, cleft lip and palate, hypertelorism (eyes are wide spaced), and kidney or other abnormalities of the renal system or genitals.Malpuech first described the syndrome in 1983 in 4 siblings. There are now 10 reported cases in the literature. Because the number of cases is so small, I could not find information about the long-term prognosis.
This disorder is inherited in an autosomal recessive manner. That means, both parents are carriers of the gene mutation that causes Malpuech syndrome. The parents are normal. There is a 25% chance with each pregnancy, that each parent will pass on the mutated gene and have a child with Malpuech syndrome.
If you have not spoken to a geneticist or genetic counselor, I would recommend that you contact one. You can speak to your doctor for a referral or contact the National Society of Genetic Counselors` Resource website below to locate a genetics clinic near you. They may be able to provide you with more information.
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Anne Matthews, RN, PhD Director, Genetic Counseling and Family Studies Associate Professor Department of Genetics School of Medicine Case Western Reserve University |
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