| VATER Associations | Vertebral defects Anal atresia Tracheo-Esophageal fistula ... |
|---|---|
| AEF | allogenic effect factor; amyloid enhancing factor; aorto-enteric fistula |
| AVF | antiviral factor; arteriovenous fistula |
| BAVFO | bradycardia after arteriovenous fistula occlusion |
| BPF | bradykinin-potentiating factor; bronchopulmonary fistula; burst-promoting factor |
| 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 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) |
| 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) |