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Fragile X syndrome (FXS) is a genetic ... prominent characteristics of the syndrome may include ... A 2013 review stated that life expectancy for FXS was 12 years ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [ 4 ] [ 5 ] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor .
Jeune syndrome, asphyxiating thoracic chondrodystrophy, infantile thoracic dystrophy: CXR of a newborn with asphyxiating thoracic dysplasia. Note the short ribs. Specialty: Medical genetics Symptoms: Narrow chest, short ribs, shortened bones of the arms and legs, unusually shaped pelvis, and extra fingers and/or toes: Treatment
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Life expectancy in type IV OI is thought to be close to normal, but in type III it is lower than in the general population. [48] A 2016 study of data in Denmark's National Patient Register found that across all types of OI, all-cause mortality was three times higher, leading to a loss of around seven years in females and nine years in males. [15]
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
A brief history: 1943: Martin and Bell described the first pedigree of inherited mental retardation 1965: The first “fragile site” on a chromosome is discovered (Debakin). 1968: Fragile sites were shown to be inherited chromosomal features (Lejeune et al.) 1969: X-linked inheritance pattern is recognized as the cause for male preponderance ...
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination ().