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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 ...
Congenital disorders are not limited to humans and can be found in a variety of other species, including cattle. One such condition is called schistosomus reflexus and is defined by spinal inversion, exposure of abdominal viscera, and limb abnormalities.
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.
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. 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 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
Chagas disease; Chickenpox; Copenhagen disease; Croup; Cystic fibrosis; Cytomegalovirus (the virus most frequently transmitted before birth) Dental caries; Type 1 diabetes; Diphtheria; Duchenne muscular dystrophy; Fifth disease; Congenital Heart Disease; Infectious mononucleosis; Influenza; Intussusception (medical disorder) Juvenile idiopathic ...
This list is incomplete; you can help by adding missing items. ( May 2016 ) 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.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency; Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Congenital amegakaryocytic thrombocytopenia; Congenital disorder of glycosylation type IIc; Congenital hepatic fibrosis; Congenital hypofibrinogenemia