Gothic Palate: Causes, Treatment & Help

Gothic palate is an abnormally high palate. The phenomenon is the symptom of various malformation complexes and thus usually has a mutation as its cause. Since severe manifestations can cause drinking and eating disorders, surgical correction is usually the treatment of choice. What is a gothic palate? The palate forms the roof of the oral … Gothic Palate: Causes, Treatment & Help

Costello Syndrome: Causes, Symptoms & Treatment

Costello syndrome is an autosomal-dominant inherited defect. Characteristic features include developmental delays, mental retardation, cardiac abnormalities, and coarse facial features. What is Costello syndrome? Costello syndrome is caused by a mutation in the gene HRAS. The gene defect is inherited in an autosomal dominant manner, which means only one copy of the defective gene is … Costello Syndrome: Causes, Symptoms & Treatment

Leigh Syndrome: Causes, Symptoms & Treatment

Leigh syndrome is a hereditary disease. It is one of the mitochondriopathies. What is Leigh syndrome? Leigh syndrome is the name given to a hereditary disorder in which there is a disturbance in mitochondrial energy metabolism. The disease also goes by the names Leigh’s disease, Leigh’s disease, and subacute necrotizing encephalomyelopathy. The name Leigh’s syndrome … Leigh Syndrome: Causes, Symptoms & Treatment

Tuberous Sclerosis: Causes, Symptoms & Treatment

Tuberous sclerosis is a hereditary disease associated with various malformations of the brain and skin changes. The condition is also known as Bourneville-Pringle syndrome after its discoverers. What is tuberous sclerosis? Tuberous sclerosis is called tuberous sclerosis complex (TSC) in English. The disease belongs to the group of phakomatoses. Phakomatoses are diseases characterized by malformations … Tuberous Sclerosis: Causes, Symptoms & Treatment

KGB Syndrome: Causes, Symptoms & Treatment

KGB syndrome , also known as Hermann-Pallister syndrome, is a very rare inherited disorder that affects all body systems. Characteristics of the genetic disorder include unusual facial features, skeletal abnormalities, and delayed development. What is KGB syndrome? The name KGB syndrome comes from the initial letters of the family names of the first patients with … KGB Syndrome: Causes, Symptoms & Treatment