Sotos syndrome (cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by autism […]
List of articles in "Disease" category - Page 30
Cicatricial pemphigoid
Cicatricial pemphigoid (also known as Mucous Membrane Pemphigoid MMP Benign mucosal pemphigoid Benign mucous membrane pemphigoid Ocular pemphigus and Scarring pemphigoid) is a rare chronic autoimmune subepithelial blistering disease characterized […]
Somatic symptom disorder
A somatic symptom disorder formerly known as a somatoform disorder is a mental disorder characterized by symptoms that suggest physical illness or injury – symptoms that cannot be explained fully […]
Fanconi syndrome
Fanconi syndrome (also known as Fanconi’s syndrome) is a disease of the proximal renal tubules of the kidney in which glucose amino acids uric acid phosphate and bicarbonate are passed […]
Hypotrichosis–lymphedema–telangiectasia syndrome
Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics) the presence of telegiectasias (small dilated vessels near the surface of […]
Hand-Foot-Genital Syndrome
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes caused primarily by shortening of the distal phalanx and/or the […]
Diffuse lamellar keratitis
Diffuse lamellar keratitis (DLK) is a sterile inflammation of the cornea which may occur after refractive surgery such as LASIK. Its incidence has been estimated to be 1 in 500 […]
Cardiac fibroma
A cardiac fibroma is a rare benign tumor of the heart that occurs primarily in children. It is most commonly located in the interventricular septum or left ventricular wall. Symptoms […]
Malpuech facial clefting syndrome
Malpuech facial clefting syndrome also called Malpuech syndrome or Gypsy type facial clefting syndrome is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in […]