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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]
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.
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 ...
Many affected individuals are within the same family, and pedigree data supports that the disease is acquired through autosomal recessive inheritance. [4] Bruck syndrome has features of congenital contractures , bone fragility, recurring bone fractures, flexion joint and limb deformities, pterygia , short body height, and progressive ...
As of 2024, there is no treatment for cutis laxa. Procedures aimed at mitigating symptoms and identifying subsequent conditions are often advised. No pharmacological agent has been able to stop the progression of the disease. [15] However, cosmetic surgeries are potentially an option as cutis laxa does not generally involve vascular fragility. [15]
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 ...
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]
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.