Search results
Results from the WOW.Com Content Network
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
Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. [1]
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.
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 ().
Life expectancy in non-congenital late-onset or adult onset DM1 is in the early 50s, [5] with pulmonary complications being the leading cause of death, followed by cardiac complications. [27] DM2 life expectancy has yet to be studied.
I'm a carrier of the Fragile X (FX) gene and a single mother of two adult daughters: my eldest (now 22 yrs. old,) was born without my affected X chromosome and is a very intelligent and dynamic young woman, while my youngest (now 21 yrs.,) was born with my affected X, and at age 12 was accurately diagnosed as having "Fragile X Syndrome with ...