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Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. [14] In severe cases, respiratory and neurological complications often lead to early death.
Frequency. 1 in 5,000–10,000 [4] Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6][7][1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Infectious mononucleosis (IM, mono), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). [2][3] Most people are infected by the virus as children, when the disease produces few or no symptoms. [2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck, and ...
Paternal age effect. The paternal age effect is the statistical relationship between the father's age at conception and biological effects on the child. [1] Such effects can relate to birthweight, congenital disorders, life expectancy and psychological outcomes. [2] A 2017 review found that while severe health effects are associated with higher ...
Neurology. Primary familial brain calcification[ 1 ] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [ 1 ] is a rare, [ 2 ] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
70 families worldwide are known to carry the gene associated with the disease, 37 sporadic cases diagnosed (as of September 20th, 2022) Fatal insomnia is an extremely rare neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom. [2] The majority of cases are familial (fatal familial insomnia [FFI]), stemming ...
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
Recent research has found that people with diabetes are more susceptible to developing multiple co-occurring long-term conditions, which, in turn, can shorten life expectancy.