What is Tietze Syndrome Tietze syndrome is a rare disease which involves the swelling of soft tissues around the rib known as cartilage. It is an inflammatory disorder. The affected individuals will have chest pain and swelling at the the upper ribs (usually the costochondral junction), more specifically where the ribs attach to the breastbone …
What is Ehlers Danlos Syndrome (EDS) Ehlers Danlos Syndrome are a group of related disorders. The etiology of EDS is due to various genetic defects in the collagen. Collagen is one of the major structural components of the body. Poor strength of collagen is responsible for the symptoms in patients with Ehlers Danlos Syndrome. Ehlers-Danlos …
Ehlers Danlos Syndrome (EDS) – 13 Subtypes, Interesting Facts, Symptoms, Prognosis Read More »
Reviewed by Dr Shakthi What is Stromme Syndrome (STROMS) Stromme Syndrome is a rare congenital disease. This Syndrome is an autosomal recessive congenital disorder which affects multiple organ systems This affect on the multiple organ systems in the body results in various clinical symptoms and signs. The onset of Stromme Syndrome is in uteroEarly childhood …
Stromme Syndrome (STROMS) – 48 Symptoms and signs, Interesting Facts, Prognosis Read More »
What is Pituitary resistance to thyroid hormone (PRTH) This congenital genetic disorder results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 hormones to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed Thyroid stimulating hormone (TSH). This condition is caused by mutation in the …
What is Resistance to thyroid hormone beta (RTHb) This congenital genetic disease is a rare syndrome of impaired tissue responsiveness to thyroid hormones. Resistance to thyroid hormone (RTH) is a clinical syndrome defined by impaired sensitivity to thyroid hormone (TH) and its more common form is caused by mutations in the thyroid hormone receptor beta (THRB) gene, …
What is Refetoff syndrome (GTHR) This congenital genetic disorder is an autosomal recessive form of thyroid hormone resistance This condition is caused by mutation in the thyroid hormone receptor gene, as is selective pituitary resistance to thyroid hormone Synonyms Deafness-thyroid hormone resistance syndrome Generalized resistance to thyroid hormone GTHR Thyroid Hormone Unresponsiveness Epidemiology 40 cases …
What is HSD10 disease (Alpha Methyacetoacetic Aciduria) HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. This condition is also known as the Alpha Methyacetoacetic Aciduria Synonyms 2-methyl-3-Hydroxybutyric AcidemiaBeta-Kethothiolase DeficiencyMitochondrial Acetoacetyl-CoA Thiolase DeficiencyMat DeficiencyT2 Deficiency 3-Oxothiolase Deficiency 3-Kethothiolase Deficiency MHBD deficiency 3-KTD Deficiency Prevalence of …