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Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
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.
List of congenital disorders. 1 language. ... Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...
Most genetic disorders are rare in themselves. [5] [8] Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease.
CDK13-related disorder; Celebrity worship syndrome; Central centrifugal cicatricial alopecia; Central cord syndrome; Central nervous system syndrome; Central pain syndrome; Centurion syndrome; Cerebellar cognitive affective syndrome; Cerebellar stroke syndrome; Cerebellopontine angle syndrome; Cerebral salt-wasting syndrome; Cervicocranial syndrome
Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. [3] Functional disorders include metabolic and degenerative disorders. [3] Some birth defects include both structural and functional disorders. [3]
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues. Chromosome ring 22 [5] is a rare disorder caused by the break and rejoining of both ends of chromosome 22, forming a ring. The effects on the individual with this disorder are dependent on the amount of genetic ...