Extraordinary Cases
A look into some of the very (very) rare cases of genetic disorders around the world.
The unnamed six-year-old Chinese boy has 15 fingers and 16 toes, four fingers on one hand and three on the other fused together. He has a condition known as polydactyly, a variety of genetic disorders which can be inherited or new mutations.
This child appears to have the much rarer condition of central polydactyly, in which the middle fingers and toes are duplicated.
He has undergone surgery of a six and a half hour operation at a hospital in Shenyang – Liaoning, to remove the surplus 11 digits. Now has ten fingers and ten toes.
Progeria
2)Progeria (Hutchinson-Gilford Progeria Syndrome) is an extremely rare genetic disorder that causes the affected individual to undergo advanced aging at an early age. The symptoms closely resemble aging and include wrinkles, hair loss, and delayed growth. Affected individuals have normal development up to 18 months and suddenly stop gaining weight and display stunted height. As the individual ages, Progeria becomes more severe with an average life expectancy of 12 years. Progeria occurs in about 1 birth per 8 million and it is estimated that there are only 35-45 cases in the world.
Progeria itself is caused by a mutation in the gene called LMNA which encodes the Lamin A protein. Lamin A functions in keeping the cytoskeleton of the nucleus together. In individuals with Progeria, the mutation causes the nucleus to become unstable and leads to premature aging.
The main cause of death is atherosclerosis (thickening of blood vessels) and frequently leads to a heart attack or stroke. Physically and genetically, children resemble the elderly. At a molecular level, the cells of patients with Progeria and the elderly have nearly identical cell disfunction. Current research on Progeria is not only leading to a cure, but also is giving insight into the aging process
Progeria itself is caused by a mutation in the gene called LMNA which encodes the Lamin A protein. Lamin A functions in keeping the cytoskeleton of the nucleus together. In individuals with Progeria, the mutation causes the nucleus to become unstable and leads to premature aging.
The main cause of death is atherosclerosis (thickening of blood vessels) and frequently leads to a heart attack or stroke. Physically and genetically, children resemble the elderly. At a molecular level, the cells of patients with Progeria and the elderly have nearly identical cell disfunction. Current research on Progeria is not only leading to a cure, but also is giving insight into the aging process
Joubert Syndrome
Joubert Syndrome (JS) is a rare genetic disorder affecting less than 350 people in the world. The gene for this syndrome has not yet been located, but it is aggressively being researched now. The key relationship between all JS patients is that the part of the brain called the cerebellar vermis is missing or is not formed properly.
The most typical features of Joubert Syndrome are:
The most typical features of Joubert Syndrome are:
- Absence or underdevelopment of part of the brain called the cerebellum vermis, which controls balance and coordination.
- A malformed brain stem, which may cause an abnormal breathing pattern called episodic hypernea, in which babies pant, and may be followed by apnea (cessation of breathing).
- Abnormal eye and tongue movements.
- Decreased muscle tone. It can be marked in the neonatal period and in infancy.
- Seizures (less typical).
Huge Face Tumor
Huang Chuncai suffers from a rare genetic disorder of the nervous system called Neurofibromatosis. The disease developed when he was four, he has since had two operations to remove one 25 pound tumor and another 33 pound tumor.
Hypertrichosis
Pruthviraj Patil also known as the ‘Werewolf Boy’ for hair all over his face and body suffers from a rare genetic condition called hypertrichosis (Werewolf Syndrome) since birth. He is believe to be one of only 50 people in the world with this condition.
After Pruthviraj’s family tried all sorts of treatment but to no avail, they appeal to doctors for a permanent cure. The hair grows back even after laser treatment and this baffles doctors for a solution. Pruthviraj lives in his own solemn world as he gets bullied, laughed at a lot at first but soon people came to accept him.
After Pruthviraj’s family tried all sorts of treatment but to no avail, they appeal to doctors for a permanent cure. The hair grows back even after laser treatment and this baffles doctors for a solution. Pruthviraj lives in his own solemn world as he gets bullied, laughed at a lot at first but soon people came to accept him.