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Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. [2]
Roberts reported a disease that was characterized by phocomelia, cleft lip, cleft palate, and a protrusion of the intermaxillary region in three siblings of an Italian couple who were first cousins, which made Roberts syndrome acquisition more likely for their children due to the disease's autosomal recessive nature.
external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome; teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals; ionizing radiation (nuclear weapons, radioiodine, radiation therapy) infections; metabolic imbalance
Mercédes Benegbi, born with phocomelia of both arms, drove the successful campaign for compensation from her government for Canadians who were affected by thalidomide. [ 52 ] Mat Fraser , born with phocomelia of both arms, is an English rock musician, actor, writer and performance artist.
[2] [4] Paraxial hemimelia means partial absence of one of the elements of the limb in the longitudinal axis (in phocomelia there is no complete absence of a part of the limb). [2] Sub types of hemimelia are the following: Fibular hemimelia, Congenital longitudinal deficiency of the fibula or fibular longitudinal meromelia [5]
Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father, as well as new mutations in one of the germ cells that gave rise to the fetus. Male germ cells mutate at a much faster rate than female germ cells, and as the father ages, the DNA of the germ cells mutates quickly.
Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly [FATCO] syndrome) is a rare genetic disease that causes congenital limb formation. [ citation needed ] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia ) of the limb. [ 1 ]
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens and also in pharmacology and toxicology.