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Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds. [ 2 ]
Emery-Nelson syndrome Familial syndrome of short stature, deformities of the hands and feet, and unusual facies Hand and foot deformity with flat facies is a rare congenital malformation syndrome , where an individual has features such as facial dysmorphism , short stature , and other malformations with the limbs.
The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked ulnar deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia of the radius. [citation needed] The male:female rate of this disorder is 1:4.
Many of these deformities, such as Dupuytren's contracture, swan-neck deformity etc. can be associated with both a chronic, progressive event, or an acute injury; [17] such as boutonnière deformity, which can be caused by trauma, [1] or induced by a chronic condition like rheumatoid arthritis. [20]
Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs. An example is polydactyly , where a foot or hand has more than 5 digits. Clubfoot , one of the most common congenital deformities of the lower limbs, occurs approximately 1 in 1000 births.
Bone deformity may also accompany nervous and arterial anomalies in some cases due to the duplication of the ulnar nerve, the presence of abnormal arterial arches, the duplication of the ulnar artery, the shortening of the radial nerve, and the absence of the radial artery. The diagnosis of ulnar dimelia is based on laboratory tests of frontal ...
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity). [1]
A hand deformity is a disorder of the hand that can be congenital or acquired. An example is Madelung's deformity. See also. Acquired hand deformity ; References