Genetic and Metabolic

A-Z Guide

Celiac Disease
Celiac disease is a food sensitivity to gluten, which is protein found primarily in wheat, rye, and barley. In those... »
Colorblindness
Colorblindness is almost always a hereditary condition. Red-green colorblindness is a recessive condition passed on the... »
Down Syndrome
Down syndrome is often diagnosed before birth by checking the baby's chromosomes, either by amniocentesis or by... »
Fragile X Syndrome
Fragile X syndrome is a condition caused by a fragile area on the X chromosome. This section of the chromosomes... »
Hemophilia
Hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) are both hereditary bleeding disorders... »
Hydrocephalus
Hydrocephalus is the build-up of excessive spinal fluid. This can be caused by a blockade or narrowing along the CSF... »
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... »
Moles
Moles or pigmented nevi are collections of pigmented cells in the skin. There are many specific types, but they are... »
Muscular Dystrophy
The muscular dystrophies are a group of illnesses that share several things in common. They are all, first and foremost... »
Phenylketonuria
PKU is an inherited condition, passed along as a recessive trait. There are over 100 different variations of the gene... »