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Mueller–Weiss syndrome, also known as Mueller–Weiss disease, is a rare [2] idiopathic degenerative disease of the adult navicular bone characterized by progressive collapse and fragmentation, leading to mid- and hindfoot pain and deformity.
Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly [FATCO] syndrome) is a rare genetic disease that causes congenital limb formation. [ citation needed ] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia ) of the limb. [ 1 ]
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 symptoms (split foot and ulnar hypoplasia) of the syndrome can be observed from birth. [1] During diagnosis, a doctor may try to rule out other possible diseases or refer the patient to a specialist. [1] Genetic counseling can be done for individuals with the syndrome who are planning on having children. [2]
The etiology may be congenital and idiopathic, posttraumatic, postinfection, iatrogenic, or secondary to a systemic disease such as cancer, sickle cell disease, pseudohyperparathyroidism, Turner's syndrome, Down syndrome, Apert syndrome, athyroidism, or osteodystrophy. [2] It most frequently involves the fourth metatarsal.
Milroy's disease does not normally affect life expectancy. [10] Medscape states patients may have recurrent streptococcal cellulitis and lymphangitis, with subsequent hospitalizations for antibiotic therapy. A rare complication is the appearance of lymphangiosarcoma or angiosarcoma in patients with persistent lymphedema.
Several medications can help alleviate symptoms of EDS such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel weakness. [10] Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it. [6] All forms of EDS can result in fatal outcomes for some ...
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...