| MIKA | minor karyotype abnormalities |
|---|---|
| MOMO | macrosomia-obesity-macrocephaly-ocular abnormalities [syndrome] |
| NAA | N-acetyl aspartate; naphthaleneacetic acid; neutral amino acid; neutron activation analysis; neutrop... |
| WAGR | Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation |
| CAH | 1) Chronic Active Hepatitis 2) Congenital Adrenal Hyperplasia |
| congenital erythropoietic porphyria | A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a rare inherited (autosomal dominant) form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differntiated measuring various blood prophyrins. Inheritance: autosomal dominant. (27 Sep 1997) |
|---|---|
| congenital facial diplegia | <syndrome> A developmental bilateral facial paralysis usually associated with oculomotor or other neurological disorders. Synonym: congenital facial diplegia. (05 Mar 2000) |
| congenital fibrosis of the extraocular muscles | An autosomal dominant disorder associated with blepharoptosis and absence of eye movements. (05 Mar 2000) |
| congenital generalised fibromatosis | Multiple subcutaneous and visceral fibrous tumours present at birth; a rare disorder often fatal in the first week of life, although sometimes undergoing spontaneous remission; probable autosomal recessive inheritance. (05 Mar 2000) |
| congenital giant pigmented nevus | These large pigmented (often hairy) congenital nevi are important because of their increased risk (10 to 15%) of conversion into malignant melanoma. A biopsy can confirm if cells have turned malignant. Any change in a pre-existing nevus should prompt a physician evaluation. (27 Sep 1997) |
| congenital glaucoma | An affection of infancy, marked by an increase of intraocular pressure with enlargement of the eyeball. Synonym: congenital glaucoma, hydrophthalmia, hydrophthalmos, hydrophthalmus. Origin: G. Bous, ox, + ophthalmos, eye (05 Mar 2000) |
| congenital haemolytic anaemia | Accelerated destruction of red blood cells due to an inherited defect, such as in the membrane in hereditary spherocytosis. (05 Mar 2000) |
| congenital haemolytic icterus | <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. (27 Sep 1997) |
| congenital haemolytic jaundice | <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. (27 Sep 1997) |
| congenital heart block | Atrioventricular block present in utero or at birth and usually of advanced or complete degree. (05 Mar 2000) |
| congenital heart disease | Heart disease that is present from birth. Examples include atrial septal defect, ventricular septal defect, aortic stenosis and tetralogy of Fallot. (27 Sep 1997) |
| congenital hernia of the diaphragm | A condition present at birth where there is abnormal protrusion of abdominal contents upward through a defect in the diaphragm. This condition is treated as a surgical emergency due to interference with the infant's breathing. Smaller, less serious diaphragmatic hernias may also be seen in adults. (27 Sep 1997) |
| congenital hip dislocation | A malformation of the hip joint that is present at birth. Genetic factors likely play a role in this disorder. Features include hip dislocation, asymmetry of leg positions, asymmetric fat folds and diminished movement on the affected side. Some children will exhibit little or no features and must be diagnosed by physical examination of the hip joints. (27 Sep 1997) |
| congenital hip dysplasia | A malformation of the hip joint that is present at birth. Genetic factors likely play a role in this disorder. Features include hip dislocation, asymmetry of leg positions, asymmetric fat folds and diminished movement on the affected side. Some children will exhibit little or no features and must be diagnosed by physical examination of the hip joints. Origin: Gr. Plassein = to form (27 Sep 1997) |
| congenital hydrocele | A collection of fluid in the unobliterated processus vaginalis leading from the abdominal cavity to the investing sac of the testis. (05 Mar 2000) |