A congenital syndrome caused by an autosomal recessive gene, consisting of short, sparse, often poorly pigmented, kinky hair and physical and mental retardation. The disease is due to a metabolic defect that causes an abnormality in the fatty acid composition of the gray matter of the brain. Death follows progressive severe degenerative changes in the central nervous system.
Menke’s syndrome, also known as a genetic disorder, results from body cells not taking in enough copper. This condition manifests from birth and leads to symptoms like fragile, coiled hair; unusually lax muscles (hypotonia); challenges with feeding; seizures; and deterioration of brain tissue. Sadly, affected children usually pass away within a few years.
Kinky-hair disease is a genetic disorder linked to the X chromosome. While only male babies are affected by the condition, females can be carriers of the gene. Individuals with a family history of this disorder might contemplate genetic counseling before deciding to have children.