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Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur.
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]
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.
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 large testicles. [ 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.
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.
Polydactyly. Polydactyly or polydactylism (from Greek πολύς (polys) 'many' and δάκτυλος (daktylos) 'finger'), [ 1] also known as hyperdactyly, is an anomaly in humans and non-human animals resulting in supernumerary fingers and/or toes. [ 2] Polydactyly is the opposite of oligodactyly (fewer fingers or toes).