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Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
According to the 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. [5] A study of Roberts syndrome, a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes. [11]
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. There are over 6,000 known genetic disorders in humans.
Symptoms may be constant or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal period include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it causes developmental delay, cognitive disabilities, abnormal development of the face and head, and organ failure. [1]
The condition's symptoms are extreme wart-like growths all over the body that are caused by a defect in the immune system. ... This boy's rare condition that causes hair to grow all over his face ...
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [1] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events ...
They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. [1] The most common sub-type is PMM2-CDG (formerly known as CDG-Ia ) where the genetic defect leads to the loss of phosphomannomutase 2 ( PMM2 ), the enzyme responsible for the ...