| atrophia | Synonym: atrophy. Origin: G. Fr. A-priv. + trophe, nourishment (05 Mar 2000) |
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| atrophia cutis | Atrophy of the skin that may occur either in discrete localised areas or in widespread areas. See: anetoderma. Synonym: atrophia cutis. (05 Mar 2000) |
| atrophia maculosa varioliformis cutis | Atrophoderma in which the skin becomes bag like and wrinkled. Synonym: atrophia maculosa varioliformis cutis, atrophoderma maculatum, macular atrophy, primary idiopathic macular atrophy, primary macular atrophy of skin. Origin: G. Anetos, relaxed, + derma, skin (05 Mar 2000) |
| atrophia pilorum propria | A general term that includes fragilitas crinium, trichorrhexis nodosa, monilethrix, and atrophy of the hair. (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) |
| 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) |
| 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) |
| chondrodystrophia calcificans congenita | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
| chondrodystrophia congenita punctata | Congenital shortening of the humerus and femur, with stippled epiphyses, high-arched palate, cataracts, erythroderma in the newborn, and scaling followed by follicular atrophoderma; there is also an autosomal dominant inheritance pattern . Synonym: chondrodystrophia congenita punctata. (05 Mar 2000) |
| myatonia 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) |
| myotonia congenita | A congenital genetic disease characterised by tonic spasm and rigidity of certain muscles when an attempt is made to move them after a period of rest or when mechanically stimulated. The stiffness disappears as the muscles are moved. (12 Dec 1998) |
| hyperkeratosis congenita | most common form of ichthyosis characterised by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. (12 Dec 1998) |