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Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
Symptoms and signs [ edit ] The predominant clinical symptoms of wrinkly skin syndrome are wrinkled and inelastic skin over the face, backs of hands/fingers, tops of feet, and abdomen; delayed closure of the fontanelle (baby's soft spot), and increased palmar and plantar creases in the hands and feet, respectively.
Symptomatic treatment, which aims to relieve symptoms and improve quality of life is the main treatment method of Bethlem myopathy. It is believed that physical therapy , stretching exercises , orthoses such as braces and splints , and mobility aids like a walker or wheelchair are beneficial to patient's condition.
Common symptoms of FAVA include severe pain and difficulty moving the affected limb, mild enlargement of the affected limb with visible veins, and contracture. [1] In the cohort described by Alomari et al. [2] from the Vascular Anomalies Center at Boston Children's Hospital, FAVA was located, in descending order, in the calf, forearm/wrist and ...
The diagnosis is based on observing the patient and finding the constellation of symptoms and signs described above. A few blood tests help, by showing signs of long-standing inflammation. There is no specific test for the disease, though now that the gene that causes the disease is known, that may change. [citation needed]
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. [ 1 ] [ 2 ] A contracture is usually permanent, but less commonly can be temporary (such as in McArdle disease ), [ 3 ] or resolve over time but reoccur later in life ...
Children may have prematurely aged skin; the middle of their face have underdeveloped structure and skin. Infants may have widely spaced eyes, a prominent forehead, a small, upturned nose, large, malformed ears, and widely spaced eyes. [6] Because of the rarity of the syndrome, there are no precise prevalence or incidence statistics. [6]
Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. [4] Every joint in the body, when affected, displays typical signs and symptoms: for example, the shoulder (internal rotation); wrist (volar and ulnar); hand (fingers in fixed flexion and thumb in palm); hip (flexed, abducted and externally ...
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