| congenital renal osteodystrophy | <radiology> Tubular form of renal osteodystrophy, vitamin D-resistant rickets, Fanconi syndrome, renal tubular acidosis (12 Dec 1998) |
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| 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) |
| congenital syphilis | <radiology> Wimberger sign, periostitis, part of ToRCHS complex (12 Dec 1998) |
| congenital torticollis | Torticollis due to a unilateral fibrous tumour in the sternocleidomastoid muscle, present at birth as a swelling that may subside or may lead to torticollis by shortening of the muscle. (05 Mar 2000) |
| congenital total lipodystrophy | Lipodystrophy characterised by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3 to 4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; both autosomal dominant and X-linked varieties exist. (05 Mar 2000) |
| congenital toxoplasmosis | Toxoplasmosis apparently resulting from parasites in an infected mother being transmitted in utero to the foetus, observed as three syndromes: 1) acute, most of the organs contain foci of necrosis in association with fever, jaundice, hydrocephaly, encephalomyelitis, pneumonitis, cutaneous rash, ophthalmic lesions, hepatomegaly, and splenomegaly; 2) subacute, most of the lesions are partly healed or calcified, but those in the brain and eye seem to remain active, inasmuch as chorioretinitis is observed in more than 80% of diseased infants; 3) chronic, usually not recognised during the newborn period, but chorioretinitis and cerebral lesions may be detected weeks to years later. (05 Mar 2000) |
| congenital valve | An abnormal lining fold obstructing a passage; e.g., of a mucous membrane in the urethra. (05 Mar 2000) |
| congenital virilizing adrenal hyperplasia | A series of inherited inborn errors of metabolism with hyperplasia of the adrenal cortex and overproduction of virilizing hormones. Most common forms are due to partial or complete 21-hydroxylase deficiency, leading to increased ACTH production by the pituitary, stimulating adrenal growth and function. Severe form is characterised by salt-losing state. (05 Mar 2000) |