Genetic Disorders

Article

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Guidelines for Diagnosing Neurofibromatosis
Neurofibromatosis (a.k.a. von Recklinghausen disease) is a genetic disorder of the nervous system that causes benign... »

A-Z Guide

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Cleft Lip and Palate
Clefts are gaps in the developing lip and/or palate. They may be small notches or large open spaces. They occur because... »
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Colorblindness
Colorblindness is almost always a hereditary condition. Red-green colorblindness is a recessive condition passed on the... »
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Congenital Heart Disease
There are many types of congenital heart disease. They can be very mild, or they can be quite serious. Some require... »
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Congenital Hypothyroidism
Congenital hypothyroidism occurs around the world, but is fairly uncommon. It is twice as common in girls as in boys.... »
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Cystic Fibrosis
Cystic fibrosis is an inherited condition where important membrane linings do not function properly. Thickened, rubbery... »
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Down syndrome
Down syndrome is often diagnosed before birth by checking the baby's chromosomes, either by amniocentesis or by... »
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Fragile X Syndrome
Fragile X syndrome is a condition caused by a fragile area on the X chromosome. This section of the chromosomes... »
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Hemophilia
Hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) are both hereditary bleeding disorders... »
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Meatal Stenosis
Meatal stenosis is the name given to the narrowing of the opening of the urethra. In the majority of cases, this is the... »