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Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [ 2 ][ 6 ][ 7 ] Most people ...
Stigmata. Stigmata (Ancient Greek: στίγματα, plural of στίγμα stigma, 'mark, spot, brand'), in Catholicism, are bodily wounds, scars and pain which appear in locations corresponding to the crucifixion wounds of Jesus Christ: the hands, wrists, feet, near the heart, the head (from the crown of thorns), and back (from carrying the ...
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3][4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
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]
Acromegaly is a disorder that results in excess growth of certain parts of the human body. It is caused by excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. [3] There may also be an enlargement of the forehead, jaw, and nose.
Rheumatology. Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Unconfirmed; between 1 in 20 (~390 million) [ 7 ] and 1 in 13 (~600 million) (all types) [ 8 ] 0.2 and 9 per 1,000 (FAS) Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person who is exposed to alcohol during gestation. [ 1 ] FASD affects 1 in 20 Americans, but is highly mis- and under-diagnosed.
According to the theory of degeneration, a host of individual and social pathologies in a finite network of diseases, disorders and moral habits could be explained by a biologically based affliction. The primary symptoms of the affliction were thought to be a weakening of the vital forces and willpower of its victim.