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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.
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.
Monosomy. Specialty. Medical genetics. Schematic karyogram of a human, showing the normal diploid karyotype. It shows annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities including partial monosomies. It shows 22 homologous chromosomes, both the female (XX) and male (XY) versions of the sex chromosome (bottom ...
Cri du chat syndrome. Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1] ). [2] It was first described by Jérôme Lejeune in 1963. [3]
Frequency. 1 in 5,000 to 1 in 10,000. 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location ...
Diseases of neonates and children younger than five years. Gonococcal ophthalmia neonatorum. Candida albicans infection. Candida parapsilosis infection. Cytomegalovirus infection. diphtheria. human coronavirus infection. respiratory distress syndrome. measles.
Mitochondrial DNA depletion syndrome ( MDS or MDDS ), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. [ 1] These syndromes affect tissue in the muscle, liver, or both ...
Chromosomal deletion syndrome. Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using ...