| arthrogryposis multiplex congenita | Limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse aetiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant, recessive, and X-linked. Synonym: amyoplasia congenita. (05 Mar 2000) |
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| paramyoclonus multiplex | Synonym: myoclonus multiplex. Origin: para-+ G. Mys, muscle, + klonos, a tumult (05 Mar 2000) |
| mononeuritis multiplex | <endocrinology, neurology> A condition characterised by inflammation of several nerves in unrelated portions of the body, may be seen in association with long-standing diabetes. (27 Sep 1997) |
| myoclonus multiplex | An ill-defined disorder marked by rapid and widespread muscle contractions. Synonym: paramyoclonus multiplex, polyclonia, polymyoclonus. (05 Mar 2000) |
| haemangioendothelioma tuberosum multiplex | An eruption of pinkish papules, caused by hyperplasia of the endothelium of the superficial blood vessels. (05 Mar 2000) |
| xanthoma multiplex | <dermatology, pathology> An accumulation of an excess of lipids in the body due to disturbance of lipid metabolism and marked by the formation of foam cells in skin lesions. (16 Dec 1997) |
| steatocystoma multiplex | Widespread, multiple, thin-walled cysts of the skin that are lined by squamous epithelium, including lobules of sebaceous cells. (05 Mar 2000) |
| dysostosis multiplex | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
| dysplasia epiphysialis multiplex | A dominantly inherited abnormality of epiphyses characterised by difficulty in walking, pain and stiffness of joints, stubby fingers, and often dwarfism of short-limb type; on X-ray examination, the epiphyses are mottled and irregular; ossification centres are late in appearance and may be multiple, but the vertebrae are normal. There is also an autosomal recessive form . Synonym: dysplasia epiphysialis multiplex. (05 Mar 2000) |
| lymphangioma tuberosum multiplex | A cutaneous lesion characterised by multiple, slightly red, cystlike nodules (located chiefly on the trunk), resulting from fairly large lymphatic vessels and spaces, and groups of proliferating endothelial cells; the lesion has some gross resemblance to spiradenoma, except for the characteristic location. (05 Mar 2000) |
| amaurosis congenita of Leber | An autosomal recessive cone-rod abiotrophy causing blindness or severely reduced vision at birth. (05 Mar 2000) |
| amyoplasia congenita | Limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse aetiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant, recessive, and X-linked. Synonym: amyoplasia congenita. (05 Mar 2000) |
| amyotonia congenita | Atonic pseudoparalysis of congenital origin (neither familial nor hereditary), observed especially in infants and characterised by absences of muscular tone only in muscles innervated by the spinal nerves. Synonym: congenital atonic pseudoparalysis, myatonia congenita, Oppenheim's disease, Oppenheim's syndrome. An indefinite term for a number of congenital neuromuscular disorders that cause generalised myotonia in young children, and that have a benign course (static or regressive). (05 Mar 2000) |
| aplasia cutis congenita | Congenital absence or deficiency of a localised area of skin, with the base of the defect covered by a thin translucent membrane; most often a single area near the vertex of the scalp, but may occur in other areas; underlying structures may also be affected; autosomal inheritance, either dominant or recessive. (05 Mar 2000) |
| pachyonychia congenita | A syndrome of ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis; the tongue is whitish and glazed owing to papillary atrophy; autosomal dominant inheritance. Synonym: Jadassohn-Lewandowski syndrome. (05 Mar 2000) |