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WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation. [1]
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 ...
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), [3] and formerly mental retardation (in the United States), [4] [5] [6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood.
It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature fusion of bones in the skull). People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state. [1] [2] It is suggested that it is from a X-linked transmission. [3]
The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. At the time Dr. Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest autosomal or x-linked recessive inheritance or ...
Icthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment, [1] Passwell-Goodman-Siprkowski syndrome [2] Specialty: Medical genetics: Symptoms: ichthyosis from birth, intellectual disabilities, abnormally short stature, and renal impairments: Usual onset: Birth: Duration: Life-long: Causes
Hennekam syndrome, also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, [1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.