Search results
Results from the WOW.Com Content Network
Shone's complex, Shone's anomaly, or Shone's disease: Specialty: Cardiology: Shone's syndrome is a rare congenital heart defect described by Shone in 1963.
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
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. [3] Kabuki syndrome affects roughly one in 32,000 ...
[4] [12] It is the most common complex congenital heart defect, accounting for about 10 percent of cases. [ 13 ] [ 14 ] It was initially described in 1671 by Niels Steensen . [ 1 ] [ 15 ] A further description was published in 1888 by the French physician Étienne-Louis Arthur Fallot , after whom it is named.
FG syndrome's major clinical features include physical disability, usually mild; hyperactive behavior, often with a slow personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting ...
Taussig–Bing syndrome is a cyanotic congenital heart defect [1] in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD). [ 2 ]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.