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 8Recessive genetic disorders occur when a person receives identical “abnormal genes” from both the father and mother. If a person inherits one normal gene and one gene for the disease, the individual will become a carrier for the disease; however, they normally do not show symptoms. The chance for two carrier parents to both supply the defective gene and produce a child with symptoms is 25 percent with each pregnancy.
Frequency: 10/ 10,000 births
Phenotype: The symptoms of thalidomide syndrome are defined by absent or shortened limbs; causing flipper hands and feet. According to Anthony J Perri III, and Sylvia Hsu they can additionally receive:
· Palsy disorder of the face
· Ear and eye abnormalities; resulting in limited/complete loss of hearing or sight
· Gastrointestinal and genitourinary tract disorders
· Ingrown genitalia
· Undeveloped/missing lungsDistorted digestive tract, heart, kidney
Diagnosis: thalidomide syndrome is first diagnosed through the use of ultrasound examination during the first 17 weeks of gestation, which may already show visible abnormalities. Poor fetus development and growth as well as malformations and defects may also be readily detected during regular ultrasound examinations.
Treatment: Patients that receive a loss of limbs due to phocomelia are typically treated with prosthetics. Infants at the age of 6 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 2 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.
Advices: Children born with Thalidomide syndrome may find it hard to live a life with full opportunities due to the fact that they are phenotipically incapacitated. For the survivors, decades of coping with stunted, twisted or missing limbs has meant greater wear and tear on remaining joints and muscles, and virtually guaranteed the premature onset of arthritis and chronic pain.It is important to tell the affected individual that a disability isn't always negative and doesn't always result in pain and dependency on others. Encouragement, love and support are always the best remedy to whatever disabilities one is encountering.
References: Dove, F. (2011). What's happened to Thalidomide babies? Retrieved on March 12, 2013 from http://www.bbc.co.uk/news/magazine-15536544
Gollop TR, Eigier A, Guidugli Neto J. (1987). Prenatal diagnosis of thalidomide syndrome. Retrieved on March 12, 2013 from http://www.ncbi.nlm.nih.gov/pubmed/3295847
Photo from: http://www.chm.bris.ac.uk/motm/thalidomide/first_pic.jpg