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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.
Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ...
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
A congenital physical anomaly is an abnormality of the structure of a body part. It may or may not be perceived as a problem condition. It may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully.
Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) CDC's National Center on Birth Defects and Developmental Disabilities; Genetic Disease Information from the Human Genome Project; Global Genes Project, Genetic and Rare Diseases Organization; List of Genetic Disorders - Genome.gov
There are many instances of mythological characters showing signs of a deformity.. Descriptions of mermaids may be related to the symptoms of sirenomelia.; The Irish mythology includes the Fomorians, who are almost without exception described as being deformed, possessing only one of what most have two (eyes, arms, legs, etc.) or having larger than normal limbs.
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]
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes , light-colored eyes, low-set ears , a short neck, and a small lower jaw . [ 1 ]