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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]
Specialty. Psychiatry. Rhythmic movement disorder ( RMD) is a neurological disorder characterized by repetitive movements of large muscle groups immediately before and during sleep often involving the head and neck. It was independently described first in 1905 by Zappert as jactatio capitis nocturna and by Cruchet as rhythmie du sommeil. [ 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 ...
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 ...
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull ( craniosynostosis ), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations in the fibroblast ...
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.
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 ...