Search results
Results From The WOW.Com Content Network
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 ...
Hepatorenal syndrome; Hereditary breast–ovarian cancer syndrome; Hereditary hyperbilirubinemia; Hereditary leiomyomatosis and renal cell cancer syndrome; Hereditary neuralgic amyotrophy; Hereditary nonpolyposis colorectal cancer; Hermansky–Pudlak syndrome; Hero syndrome; Heyde's syndrome; High-rise syndrome; HIV/AIDS; Holiday heart syndrome ...
Cancer; Candidiasis ("Thrush") 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 ...
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.
RET can mutate in many ways and is associated with Down syndrome. Since Down syndrome is comorbid in 2% of Hirschsprung's cases, a likelihood exists that RET is involved heavily in both Hirschsprung's disease and Down syndrome. RET is also associated with medullary thyroid cancer and neuroblastoma, which is a type of cancer common in children ...
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. [3] The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), but these components do not always occur. [3]
Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. [2]