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Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, [ 1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low ...
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]
Fragile X syndrome. Fragile X syndrome ( FXS) is a genetic 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 ...
Arachnodactyly. Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm. This condition is present at birth.
Apert syndrome. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial ...
Ectrodactyly, split hand, or cleft hand[ 1] (from Ancient Greek ἔκτρωμα (ektroma) 'miscarriage' and δάκτυλος (daktylos) 'finger') [ 2] involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation ( SHFM ). [ 3] The hands and feet of people with ...
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.
One day, she suddenly felt tingling in her hands and feet and visited a local emergency room. Doctor thought the then 20-year-old needed to consume more fluids.