Turner syndrome: Description Turner syndrome is also known as monosomy X. It occurs in one in 2,500 newborns. Women with Turner syndrome lack functioning ovaries. Turner syndrome is called a syndrome because there are several signs of the disease that occur at the same time and are related. It is also referred to as a … Turner Syndrome: Symptoms, Treatment
Nicolaides-Baraitser syndrome is a disease that affects only a small number of individuals. Nicolaides-Baraitser syndrome represents a congenital disorder that consequently exists in affected individuals from birth. Some symptoms only become apparent with increasing age. The leading symptoms of Nicolaides-Baraitser syndrome include abnormalities of the fingers, short stature, and disturbances in the hairiness of the … Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment
The medical term brachydactyly describes shortened fingers and toes. This condition, usually inherited in an autosomal dominant manner, belongs to the group of malformed limbs. What is brachydactyly? This genetic defect occurs either in isolation or syndromically. The course may have a primary or a secondary cause. It is additionally characterized by bony dysostosis. Only … Brachydactyly: Causes, Symptoms & Treatment
Greig syndrome is a medical term for a congenital malformation syndrome associated primarily with facial deformities and multi-jointedness of the fingers and toes. Although the hereditary syndrome cannot be cured, it can be treated surgically. Patients with the mutation-related disease are considered to have an excellent prognosis. What is Greig syndrome? Greig syndrome is also … Greig Syndrome: Causes, Symptoms & Treatment
Asphyxiating thoracic dysplasia is a short rib polydactyly syndrome. The patients’ narrow thorax usually causes thoracic respiratory failure. If affected individuals survive the first two years, the risk of death in the future is greatly reduced. What is asphyxiating thoracic dyplasia? Asphyxiating thoracic dyplasia is a skeletal dysplasia in the short rib polydactyly group of … Asphyxiating Thoracic Dyplasia: Causes, Symptoms & Treatment
Ophthalmoplegia progressiva externa is a progressive and genetic paralysis of the external eye muscles in the setting of mitochondriopathy. Drooping of the eyelids is considered the leading symptom, but cardiac arrhythmias may also occur. No causal therapy exists. What is ophthalmoplegia progressiva externa? The clinical term “ophthalmoplegia” refers to isolated paralysis of the internal or … Ophthalmoplegia Progressiva Externa: 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
Silver-Russell syndrome (RSR) represents a very rare syndrome that is characterized by prenatal growth disturbances with the development of short stature. So far, only about 400 cases of the disease have been documented. The presentation is highly variable, suggesting that it is not a uniform disorder. What is Silver-Russell syndrome? Silver-Russell syndrome is characterized by … Silver-Russell Syndrome: Causes, Symptoms & Treatment
Zellweger syndrome is the medical term for a genetic and fatal metabolic disease. This is manifested by and can be characterized by the absence of peroxisomes. The syndrome is congenital due to a gene mutation and can be inherited in families. What is Zellweger syndrome? Zellweger syndrome is a relatively rare inherited disorder. It is … Zellweger Syndrome: Causes, Symptoms & Treatment
Short stature, short stature, or short stature are commonly used colloquial terms for microsomia. It does not initially represent a disease in its own right, but can appear as a symptom of many different diseases. However, it often results in other complaints in the life of the affected person. What is short stature? About 100,000 … Short Stature: Causes, Symptoms & Treatment
Progeria type 1, also known as Hutchinson-Gilford progeria syndrome, is a first-ever, albeit extremely rare, childhood disease. In very general terms, progeria can be described as a disease that causes the affected child to age at a rapid rate. What is progeria type 1? The name of the disease called progeria type 1 is derived … Progeria Type 1 (Hutchinson-Gilford Progeria Syndrome): Causes, Symptoms & Treatment
As part of the pituitary gland, the adenohypophysis is an important endocrine gland. It is responsible for producing a number of different hormones. Disorders in the function of the adenohypophysis lead to typical diseases caused by a deficiency or excess of certain hormones. What is the adenohypophysis? The adenohypophysis is called the anterior pituitary gland … Adenohypophysis: Structure, Function & Diseases
