11 Weird Genetic Diseases You've Never Heard Of

Its name comes from the cry of affected infants, which is like a meowing kitten, because of problems with their larynx & nervous system. Symptoms include poor growth, cognitive delays, and unusual facial features due to missing part of their 5 chromosome.

This disease is an iron overload, which causes bronzing of the skin, diabetes, testicular failure, and joint pain.

Essentially, osteoporosis for babies and small children, this disease affects less than 200 families in the world but leads to devastating symptoms such as slow growth, misshapen head, impaired vision, etc.

A neurodevelopmental disorder that is marked by severe intellectual and developmental disability, seizures, jerky movements, and frequent laughter.

A rare blood disease that most patients die of within 5 years of diagnosis. Symptoms include abdominal pain, blood in urine, and difficulty swallowing.

A result of two or more X chromosomes in males, this disease primarily causes sterility, or the inability to have children. Other symptoms include weaker muscles, disinterest in sex, poor coordination, less body hair, and other strangely emasculating symptoms.

This being one of the tamest pictures we could find, this disease causes tumor formations, usually much larger, all over the body.

This rare disease means that 7 genes have been deleted, causing poor muscle tone, excessive sleeping, scoliosis, delayed puberty, and an assortment of random symptoms.

This rare disease causes a webbed neck, low set ears, low stature, and swollen hands and feet at birth. Often the affected never develop menstrual cycles and are unable to have children.

This awful disease causes deterioration of nerve cells and mental and physical abilities that starts around 7 months of age and often ends in death by the age of four.

This results in muscular deterioration and ultimately premature death. The symptoms usually begin before age 6 and are noticed as awkward way of walking, falling often, fatigue, and bad motor skills.