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Genetics. An α1 type I collagen protein. Osteogenesis imperfecta is a group of genetic disorders, all of which cause bone fragility. OI has high genetic heterogeneity, that is, many different genetic mutations lead to the same or similar sets of observable symptoms (phenotypes).
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disabling chronic illness. People with ME/CFS experience profound fatigue that does not go away with rest, sleep issues, and problems with memory or concentration. Further common symptoms include dizziness, nausea and pain. [3] The hallmark symptom is a worsening of the illness ...
Poliomyelitis (/ ˌ p oʊ l i oʊ ˌ m aɪ ə ˈ l aɪ t ɪ s / POH-lee-oh-MY-ə-LY-tiss), commonly shortened to polio, is an infectious disease caused by the poliovirus. [1] Approximately 75% of cases are asymptomatic; [5] mild symptoms which can occur include sore throat and fever; in a proportion of cases more severe symptoms develop such as headache, neck stiffness, and paresthesia.
Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Frequency. ~25% in any given month [ 7 ][ 8 ] Low back pain or lumbago is a common disorder involving the muscles, nerves, and bones of the back, in between the lower edge of the ribs and the lower fold of the buttocks. Pain can vary from a dull constant ache to a sudden sharp feeling. [ 4 ]
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to a rigid, sickle -like shape under ...
HFMD often causes a fever, flu-like symptoms, low appetite, and painful swallowing. A rash with the following characteristics appears around the same time. Small red or dark spots or blisters on ...
Brittle-cornea syndrome is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. [5] [35] Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. [36] It has two types. Type 1 occurs due to variations in the ...