| DKC | dyskeratosis congenita |
|---|---|
| MCR | Medical Corps Reserve; melanocortin receptor; message competition ratio; metabolic clearance rate; m... |
| OIC | osteogenesis imperfecta congenita |
| PMC | paramyotonia congenita; patient management category; phenylmercuric chloride; physical medicine clin... |
| DC | Dyskeratosis Congenita |
|---|---|
| DKC | Dyskeratosis congenita |
| PC | Pachyonchia congenita |
| PC | Paramyotonia congenita |
| 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) |
| 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) |