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CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA -related overgrowth syndromes (PROS).
ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. [3] Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections. [4]
Prosopometamorphopsia (PMO [1]), also known as demon face syndrome, [2] is a visual disorder characterized by altered perceptions of faces. In the perception of a person with the disorder, facial features are distorted in a variety of ways including drooping, swelling, discoloration, and shifts of position.
Okamoto syndrome; Other names: Au–Kline syndrome (AKS), [1] neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome, [2] congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation [3] Boy with Okamoto syndrome, showing the characteristic facial features ...
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available.
Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.
The chemotherapy drug 5-FU can be toxic to some people with cancer. A quick, cheap test can show if chemo is safe for a patient, but few doctors order it. A quick, cheap test could protect against ...
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation. [1]
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