Search results
Results from the WOW.Com Content Network
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
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.
Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. [1]
For years, a man from Bangladesh lived with "tree man" syndrome.. Abul Bajandar's hands and feet grew foot-long "roots" that left him unable to feed himself, move around, work or wear normal clothing.
When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form: a golden retriever named Yammy. Susan Bresnahan’s son, Patrick, was born in 2020 during ...
Rare genetic syndromes (1 C, 176 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" ... Familial Alzheimer-like prion disease;
Orphanet is an online database with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes), Orphanet contributes to making them more visible in health ...
A. Aarskog–Scott syndrome; Ablepharon macrostomia syndrome; Absence deformity of leg-cataract syndrome; Ackerman syndrome; Acro-oto-radial syndrome; Acrocallosal syndrome