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Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome , people with CCA typically have an arm span that is greater than their height and very long fingers and toes . [ 2 ]
Other terms used to describe regression in children with autism are autism with regression, autistic regression, setback-type autism, and acquired autistic syndrome. [16] Within the regressive autism developmental course, there are two patterns. The first pattern is when developmental losses occur in the first 15 months to 3 years.
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability. Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean.
The syndrome typically results in intellectual disability, including motor and language delays. [2] [3] [4] Some individuals have had agenesis of the corpus callosum or aplasia of the cerebellar vermis. [1] [2] [3] This can sometimes manifest with symptoms of autism spectrum disorder. [2] [3] [4] Low muscle tone and strabismus are also common.
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is
Currently there is no cure for DESSH syndrome, and the treatment relies on managing its symptoms. Children with DESSH often require several forms of support, including physical therapy, occupational therapy and speech therapy. The treatment also involves screening for autism, neurological issues, ocular abnormalities and kidney deficits.
Classic autism, also known as childhood autism, autistic disorder, or Kanner's syndrome, is a formerly diagnosed neurodevelopmental disorder first described by Leo Kanner in 1943. It is characterized by atypical and impaired development in social interaction and communication as well as restricted, repetitive behaviors, activities, and interests.
Those affected have a nearly normal life expectancy. [6] AS affects 1 in 12,000 to 20,000 people. [6] Males and females are affected with equal frequency. [7] It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965. [7] [10] An older term, happy puppet syndrome, is generally considered pejorative. [11]