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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; Craniopagus ...
Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome; Leukotriene receptor antagonist-associated Churg–Strauss syndrome; Levator ani syndrome; Leydig cell hypoplasia; Liddle's syndrome; Liebenberg syndrome; LIG4 syndrome; Lima syndrome; Limb girdle syndrome; Limber tail syndrome; Limb–mammary 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.
A congenital malformation is a physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome. [citation needed] Some conditions are due to abnormal tissue development:
Acquired immune deficiency syndrome AIP Acute intermittent porphyria: ALA DD Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) ALD Alcoholic liver disease: ALI Acute lung injury: ALL Acute lymphoblastic lymphoma, acute lymphocytic leukemia: ALS Amyotrophic lateral sclerosis: AMD Age-related ...
Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. The main article for this category is Congenital disorder .
respiratory distress syndrome; measles; meconium aspiration syndrome; metapneumovirus (hMPV) infection; necrotizing enterocolitis; neonatal conjunctivitis; parainfluenza (PIV) infection; pertussis; poliomyelitis; prenatal Listeria; Group B streptoccus infection; Tay–Sachs disease; tetanus; Ureaplasma urealyticum infection; respiratory ...
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.