Genetic inheritance
According to National Organization for Rare Disorders (NORD): when phocomelia is transmitted [in its familial genetic form] it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8.A study of Roberts Syndrome, a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes. An individual afflicted with Roberts Syndrome will have chromosome copies that do not connect at the centromeres, making them unable to line up accordingly. As a result, the newly made cells contain an excess or reduced number of chromosomes. In both Roberts Syndrome and phocomelia the cells cease to develop, or die, preventing proper development of the limbs, eyes, brain, palate, or other structures. Treatment
Prosthesis is a synthetic alternative for missing limbs, teeth, and various other body parts. Advances in prosthetic limbs have increased greatly during the twentieth century. The use of new materials such as modern plastics, complex procedures and better pigments have created lighter in weight and more realistic looking artificial limbs. With the advancement of myoelectric prosthetic limbs, patients are able to move their limbs without the use of cords or other devices. The myoelectric limbs can detect electric signals from the nervous system and muscles. They were first used on adults, but now they are being fitted to children.Patients that receive a loss of limbs due to phocomelia are typically treated with prosthetics. Infants at the age of six months are recommended to have a prosthetic mitten fitted; enabling them to get used to the prosthesis.
A hook will be added when the child reaches the age of two years. Eventually the patient may receive a myoelectric prosthetic limb. Patients are treated in this way due to the lack of understanding at a young age and the absence of necessary tissues and bones to hold the prosthetic limb. Notable cases
Mat Fraser was born with phocomelia due to his mother taking thalidomide while she was pregnant. He is known as the drummer of rock bands including Fear of Sex, The Reasonable Strollers, Joyride, The Grateful Dub, and Living in Texas. He is also an actor and performing artist. Alison Lapper was born with phocomelia. She is arm deficient and has shortened bones and legs. Lapper graduated from Brighton University in 1994, established herself as a visual artist, and in 2000 gave birth to a son, Parys. Lapper produces cards and calendars for The Mouth and Foot Painters Association. She does not wear prosthetic limbs. Ronan Tynan was born with phocomelia. He became a track and field athlete, competing in the 1984 and 1988 Summer Paralympics. Tynan went on to a career as a physician, and later, a singer. Ame Barnbrook was born without arms and only the lower half of her left leg, and three toes. She has a rarer form of phocomelia, meaning all of her limbs are affected. She graduated from the University of Wollongong with a Bachelor of Creative Arts. Barnbrook plays the trumpet with her foot and is a competitive sailor. She sails a SKUD18 at world championship level.