Search results
Results from the WOW.Com Content Network
Aicardi syndrome. Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2] Other malformations of the brain and skeleton may also occur.
Visual or vision impairment ( VI or VIP) is the partial or total inability of visual perception. In the absence of treatment such as corrective eyewear, assistive devices, and medical treatment – visual impairment may cause the individual difficulties with normal daily tasks including reading and walking. [6]
Psychiatry. Mental disorders diagnosed in childhood can be neurodevelopmental, emotional, or behavioral disorders. These disorders negatively impact the mental and social wellbeing of a child, and children with these disorders require support from their families and schools. Childhood mental disorders often persist into adulthood.
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. [2]
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome. Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism. Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins. Costello syndrome.
PDD-NOS is not a current part of the Diagnostic and Statistical Manual of Mental Disorders typology (as of the DSM-5), which is the most common diagnostic typology used in the United States. In the still used (though deprecated) ICD-10, it is considered "atypical autism" and "pervasive developmental disorder, unspecified".
Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
1 in 40,000 newborns [1] Leber congenital amaurosis ( LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. [2] It affects about 1 in 40,000 newborns. [1] LCA was first described by Theodor Leber in the 19th century. [3] [4] It should not be confused with Leber's hereditary optic neuropathy, which is a ...