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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.
Bilateral symmetric tetraphocomelia- a birth defect in which the hands and feet are attached to shortened arms and legs; Prenatal growth retardation An example of a severely affected Roberts syndrome Patient; Hypomelia (hypoplasia)- the incomplete development of a tissue or organ; less drastic than aplasia, which is no development at all
One class of congenital limb deformities, limb reduction defects, occurs when one or more limbs are undersized or missing parts. The prevalence of these defects in the United States is approximately 1 in 1900 births. [2] This category includes amelia, ectrodactyly, radial dysplasia, and phocomelia among others. These defects are more likely to ...
Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. [3] Functional disorders include metabolic and degenerative disorders. [3] Some birth defects include both structural and functional disorders. [3]
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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Such diseases include Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome. [7] However, in the case of Hecht Scott syndrome there seems to be no mutation in the WNT7A gene. [7] Furthermore, there is a cluster of homeobox D genes on chromosome 2 that participates in the development of limbs.
Dysmelia can be caused by [citation needed]. Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms ()