Bourneville-Pringle syndrome is known as a triad of tumors of the brain with epilepsy and developmental delay, skin lesions, and growths in other organ systems. The disease is caused by a mutation of two genes, TSC1 and TSC2. Therapy is symptomatic with a focus on the epilepsy. What is Bourneville-Pringle syndrome? The medical term Bourneville-Pringle … Bourneville-Pringle Syndrome: Causes, Symptoms & Treatment
Argininosuccinic acid disease is a metabolic disorder that is already congenital. It is caused by a defect in the enzyme argininosuccinate lyase. What is argininosuccinic acid disease? Argininosuccinic acid disease (argininosuccinaturia) is a congenital urea cycle defect. Urea, which is one of the organic compounds, is formed in the liver. Urea is of considerable importance … Argininosuccinic Acid Disease: Causes, Symptoms & Treatment
Corpus callosum agenesis is a hereditary disorder and inhibitory malformation with partial or total malposition of the cerebral peduncle. Affected individuals often exhibit behavioral abnormalities and may suffer from symptoms such as visual and hearing loss. Agenesis is treated symptomatically because no causal therapy exists. What is corpus callosum agenesia? The corpus callosum is a … Corpus Callosum Agenesis: Causes, Symptoms & Treatment
Saethre-Chotzen syndrome is a disease associated with craniosynostosis. Saethre-Chotzen syndrome is congenital, as the causes are genetic. The disease is referred to by the abbreviation SCS. The main symptoms of Saethre-Chotzen syndrome are synostosis of the cranial suture on one or both sides, ptosis, an asymmetrical face, unusually small ears, and strabismus. What is Saethre-Chotzen … Saethre-Chotzen Syndrome: Causes, Symptoms & Treatment
L1CAM syndrome is a rare inherited disorder. The mode of inheritance of L1CAM syndrome is x-linked. The typical symptoms of L1CAM syndrome are expressed as spasticity, adducted thumb, and various brain abnormalities in affected patients. What is L1CAM syndrome? L1CAM syndrome is also known by the synonymous names CRASH syndrome, MASA syndrome, and Gareis-Mason syndrome. … L1CAM Syndrome: Causes, Symptoms & Treatment
Cleidocranial dysplasia is a condition usually characterized by the absence or underdevelopment of the clavicles and a wide opening of the fontanelles and cranial sutures. Other bones of the body may also be deformed. In addition, dental changes may occur as part of the disease. Cleidocranial dysplasia is inherited and occurs very rarely. What is … Cleidocranial Dysplasia: Causes, Symptoms & Treatment
Bogaert-Divry syndrome is a hereditary disease. The hereditary disease is inherited in an autosomal recessive manner. In addition to mental retardation, symptoms of Bogaert-Divry syndrome include hemangiomas on the skin and in the central nervous system. What is Bogaert-Divry syndrome? The inherited disorder Bogaert-Divry syndrome occurs only when both parents are carriers of the defective … Bogaert-Divry Syndrome: Causes, Symptoms & Treatment
Allan-Herndon-Dudley syndrome is a mutation in the SLC16A2 gene that alters the thyroid hormone transporter MCT8 and causes impaired iodothyronine uptake in muscle tissue and the central nervous system. Due to the mutation, affected individuals suffer from muscle weakness, as well as mobile and mental developmental delay. AHDS is incurable and has been treated exclusively … Allan-Herndon-Dudley Syndrome: Causes, Symptoms & Treatment
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
Currarino syndrome is a symptomatic triad of anorectal and sacral abnormalities with presacral masses. The syndrome is a hereditary disorder commonly associated with a mutation of the MNX1 gene and caused by defective separation of the ento and neuroectoderm. Causal therapies do not exist. What is currarino syndrome? The medical term triad refers to a … Currarino Syndrome: Causes, Symptoms & Treatment
Chorionic villus sampling can be used during pregnancy to examine the unborn child for possible genetic disorders. It is possible to perform this examination method at a very early stage in pregnancy. What is chorionic villus sampling? Chorionic villus sampling can be used during pregnancy to examine the unborn child for possible genetic disorders. Prenatal … Chorionic Villus Sampling: Treatment, Effects & Risks
In the following article, the so-called Brooke-Spiegler syndrome is explained. After a precise definition of the hereditary disease, its causes as well as possibly occurring symptoms, the course, treatment and its prevention are outlined. What is Brooke-Spiegler syndrome? The term Brooke-Spiegler syndrome refers to a very rare hereditary disorder in which skin tumors and tumors … Brooke-Spiegler Syndrome: Causes, Symptoms & Treatment
