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Down syndrome is the most common genetic cause of intellectual disability. Among children, the cause of intellectual disability is unknown for one-third to one-half of cases. [11] About 5% of cases are inherited. [12] Genetic defects that cause intellectual disability, but are not inherited, can be caused by accidents or mutations in genetic ...
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms ...
The word "cretinism" is an old term for the state of mental and physical retardation resulting from untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine levels in the soil and local food sources. The term, like so many other 19th century medical terms, acquired pejorative connotations as it ...
The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, [3] though the cause is not identified in most cases. [4] Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms.
Hyperthermia causes anencephaly, which is when part of the brain and skull are absent in the infant. [61] [68] Mother exposure to toxoplasmosis can cause cerebral calcification, hydrocephalus (causes mental disabilities), [69] and intellectual disability in infants. Other birth abnormalities have been reported as well, such as chorioretinitis ...
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
Filippi syndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease. [1] Only a very limited number of cases have been reported to date. [ 2 ]