Juberg-Marsidi Syndrome: Causes, Symptoms & Treatment

Juberg-Marsidi syndrome is a hereditary disorder associated with mental retardation and physical disorders. The syndrome is rare, with one case per million births. It is caused by a mutation in the ATRX gene. What is Juberg-Marsidi syndrome? Juberg-Marsidi syndrome, also called Smith-Fineman-Myers syndrome or X-linked mental retardation-hypotonic facies syndrome I, is a hereditary disorder. It … Juberg-Marsidi Syndrome: Causes, Symptoms & Treatment

Fetal Alcohol Syndrome: Causes, Symptoms & Treatment

Fetal alcohol syndrome is associated with multiple impairments in the child’s cognitive and somatic development and manifests as a result of alcohol consumption during pregnancy. With an incidence of approximately 1 in 500, fetal alcohol syndrome is one of the most common causes of intellectual disability (preceding Down syndrome). What is fetal alcohol syndrome? Fetal … Fetal Alcohol Syndrome: Causes, Symptoms & Treatment

Baller-Gerold Syndrome: Causes, Symptoms & Treatment

Baller-Gerold syndrome belongs to the group of malformation syndromes with predominant involvement of the face. The syndrome is due to mutations and is passed on in an autosomal dominant inheritance. Therapy is limited to symptomatic treatment, which consists largely of surgical correction of the malformations. What is Baller-Gerold syndrome? In the disease group of congenital … Baller-Gerold Syndrome: Causes, Symptoms & Treatment

Insular Giftedness: Causes, Symptoms & Treatment

Insular giftedness is the modern technical term for a particular intelligence profile formerly known by the discriminatory name “idiot savant” or the misleading term savant. Insular giftedness occurs when there is an uneven spectrum of aptitude. Thus, insularly gifted individuals do not have a balanced, evenly distributed intelligence; rather, they have insular gifts; they are … Insular Giftedness: Causes, Symptoms & Treatment

Iodine Deficiency: Causes, Symptoms & Treatment

Iodine deficiency – an important topic in Germany, among other things, due to iodine-poor arable soils. With the appropriate measures, iodine deficiency and associated physical complaints can usually be prevented at an early stage. What is iodine deficiency? The physician examines the thyroid glands, especially if iodine deficiency is prevalent. Iodine deficiency is an undersupply … Iodine Deficiency: Causes, Symptoms & Treatment

Amniotic Infection Syndrome: Causes, Symptoms & Treatment

Amniotic infection syndrome is a serious complication during pregnancy or the birth process. It is a serious bacterial infection of the placenta, egg cavity, membranes, and possibly fetus that must be treated immediately to save the lives of both mother and baby. What is amniotic infection syndrome? Amniotic infection syndrome is a serious bacterial infection … Amniotic Infection Syndrome: Causes, Symptoms & Treatment

Poriomania: Causes, Symptoms & Treatment

Poriomania represents a disorder of impulse control characterized by unfounded compulsive running away. The running away here is always associated with at least partial amnesia. Poriomania can have a variety of causes. What is poriomania? Poriomania is not a disease in its own right, but represents a symptom of a mental disorder. It is manifested … Poriomania: Causes, Symptoms & Treatment

Dystroglycanopathy: Causes, Symptoms & Treatment

Dystroglycanopathies are among the hereditary muscular dystrophies. They are a group of muscle disorders with varying symptoms, but all arise from disorders of specific glycosylations. There are currently no causal treatments for any of the dystroglycanopathies. What are dystroglycanopathies? Dystroglycanopathies represent hereditary muscular dystrophies based on metabolic disorders of glycosylation reactions. They are very rare … Dystroglycanopathy: Causes, Symptoms & Treatment

Mowat-Wilson Syndrome: Causes, Symptoms & Treatment

Mowat-Wilson syndrome is a rare, genetic developmental disorder with multiple symptoms. As part of the genetic defect, heart defects and brain developmental abnormalities present themselves in addition to facial, intestinal, and genital abnormalities. The disease, which is as yet incurable, can only be treated symptomatically. What is Mowat-Wilson syndrome? Mowat-Wilson syndrome is a rather recent … Mowat-Wilson Syndrome: Causes, Symptoms & Treatment

Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Chondrodyplasia punctata of the rhizomelic type is one of the congenital malformations. The disorder is characterized by a striking short stature. The patient’s life expectancy is severely shortened in this disease. What is chondrodyplasia punctata of the rhizomelic type? Chondrodyplasia punctata syndromes are a group of different diseases. All subtypes are genetic diseases with characteristic … Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment