| 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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| 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) |
| 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) |
| ichthyosis congenita neonatorum | Generalised ichthyosis with parchment-like skin seen in premature babies. (05 Mar 2000) |
| dyskeratosis congenita | An x-linked syndrome occurring predominantly in males, with onset in childhood and characterised by nail dystrophy, reticular cutaneous hyperpigmentation, mucosal leukokeratosis, and pancytopenia resembling that of fanconi. It is also known as zinsser-cole-engman syndrome. (12 Dec 1998) |
| ectopia pupillae congenita | Displacement of the pupil present at birth. (05 Mar 2000) |
| fistula auris congenita | A congenital fistula resulting from a defect in the formation of the auricle of the ear. (05 Mar 2000) |
| fistula colli congenita | A congenital fistula of the neck leading to the pharynx, larynx, or trachea. (05 Mar 2000) |