10 rare genetic disorders

Your genetics make you who you are, but sometimes they get a little out of whack and the results can be quite unusual. Here are 10 interesting genetic disorders and what they are all about.

Abdominal Wall Defect: Gastroschisis is a rare genetic condition in which a baby is born with its insides on the outside. The intestines push through a small hole next to the belly button and develop on the exterior of the abdomen. This condition is corrected through surgery. It is thought that environmental factors during gestation may cause gastroschisis to happen.

Allergic to Cold: Cold Urticaria is a skin reaction to cold air or water where the affected person develops hives upon exposure. It is thought to be a genetic disorder where skins cells are hypersensitive to temperature, or it may be brought on by a virus or illness. To diagnose the disease the doctor holds an ice cube to the skin for 5 minutes and checks for hives to develop .

Localized Gigantism: Macrodactyly is a rare genetic disorder where a baby’s finger or toe is abnormally large due to an overgrowth of bone and soft tissue. Surgery is required to correct the problem.

Blue Skin Disorder: Methemglobinemia is a blood disorder that causes too much of a certain form of hemoglobin – the oxygen-carrying blood cell – that is unable to release oxygen, resulting in a blue tint to the skin. This disease can be genetic or acquired. The acquired form is thought to be a reaction to drugs, chemicals, or foods.

Walking Corpse Syndrome: Cortard’s Delusion is a rare mental disorder that makes people think they are already dead. It is thought to be a malfunction in the part of the brain that recognizes faces and processes emotions. The treatment is antidepressants and antipsychotics.

Lobster Claw Hand: Ectrodactyly is a rare genetic disease that causes a cleft to form where the middle finger or toe is supposed to be. Surgery is needed to correct the malformation.

Boy in the Bubble Syndrome: Severe Combined Immunodeficiency Syndrome is a genetic disease that causes a person to be born with an ineffective immune system. People with this disease cannot fight off any infections, which is why living in a bubble was thought to be the best way to keep safe.

Moon Child Disease: Xeroderma Pigmentosum is a rare genetic disorder that causes a heightened reaction to the sun. Blisters and extreme sunburn appear after a very short exposure to sunlight.

Stone Man’s Disease: Fibrodysplasia Ossificans Progressiva is a rare genetic disease where muscle tissue and connective tissue are gradually replaced by bone, forming bone outside the skeleton and limiting movement. It can progress more quickly as a result of trauma.

Benjamin Button Disease: Progeria is a rare genetic condition that causes a child to age at a rapid pace. Most children do not live past 13 with this disease. Children with this disease have physical changes like a big head, large eyes, visible veins, and hair loss. They also get diseases usually only present in people over 50.
