| congenital paramyotonia | Paramyotonia congenita, a nonprogressive myotonia induced by exposure of muscles to cold; there are episodes of intermittent flaccid paralysis, but no atrophy or hypertrophy of muscles; autosomal dominant inheritance. There is a variant autosomal dominant form in which cold is not a provoking factor. Synonym: Eulenburg's disease. (05 Mar 2000) |
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| congenital pneumonia | Pneumonia in the newborn, infection being contracted prenatally. (05 Mar 2000) |
| congenital protein C or s deficiency | This inherited disorder of blood coagulation is characterised by a deficiency of vitamin K dependent plasma proteins (C and s) that are naturally occurring anticoagulants. This disorder results in an increased risk of blood clot formation within the circulatory system. (27 Sep 1997) |
| congenital pulmonary arteriovenous fistula | Abnormal congenital communication between pulmonary arteries and veins usually found in the lung parenchyma. (05 Mar 2000) |
| congenital pyloric stenosis | <radiology> Not seen until 3 weeks, projectile vomiting, palpable olive in RUQ/epigastrium (12 Dec 1998) |
| congenital renal cysts | <radiology> Congenital solitary cyst, multilocular cyst, multicystic disease (renal dysplasia), polycystic disease, autosomal-recessive (childhood) form, autosomal-dominant (adult) form, medullary sponge kidney, medulary cystic disease see also: Potter syndrome (12 Dec 1998) |
| congenital renal osteodystrophy | <radiology> Tubular form of renal osteodystrophy, vitamin D-resistant rickets, Fanconi syndrome, renal tubular acidosis (12 Dec 1998) |
| congenital rubella syndrome | <syndrome> Foetal infection with rubella virus during the first trimester of pregnancy resulting in a series of congenital abnormalities including heart disease, deafness, and blindness. (05 Mar 2000) |
| congenital sebaceous hyperplasia | Misnomer for nevus sebaceus. (05 Mar 2000) |
| congenital severe combined immunodeficiency | Disease, one form of which is caused by the lack of a transcription factor required for expression of HLA class II genes. (18 Nov 1997) |
| congenital sinus tumour | <radiology> Midline depression or tract, lined with stratified squamous epithelium, most common sites: lumbosacral area, occiput, epidermoid or dermoid cyst anywhere along tract (12 Dec 1998) |
| congenital spastic paraplegia | A spastic paralysis of the lower extremities occurring in the infant. Synonym: infantile spastic paraplegia. (05 Mar 2000) |
| congenital spherocytic anaemia | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. Origin: Gr. Haima = blood (27 Sep 1997) |
| congenital stridor | Crowing inspiration occurring at birth or within the first few months of life; sometimes without apparent cause and sometimes due to abnormal flaccidity of epiglottis or arytenoids. Synonym: laryngeal stridor. (05 Mar 2000) |
| congenital sutural alopecia | A syndrome of bony anomalies of the calvaria, face, and jaw, with brachygnathia, narrow curved nose, and multiple ocular defects including microphthalmia, microcornea, and cataract, often with alopecia overlying skull sutures, or alopecia areata and hypoplasia, or absence of eyebrows. The pattern of inheritance is undecided. Synonym: congenital sutural alopecia, Hallermann-Streiff syndrome, Hallermann-Streiff-Francois syndrome, mandibulo-oculofacial syndrome, oculomandibulodyscephaly, oculomandibulofacial syndrome, progeria with cataract, progeria with microphthalmia. (05 Mar 2000) |