| REEDS | retention of tears, ectrodactyly, ectodermal dysplasia, and strange hair, skin and teeth [syndrome] |
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| SCE | secretory carcinoma of the endometrium; sister chromatid exchange; split hand-cleft lip/palate ectod... |
| FMD | facility medical director; family medical doctor; fibromuscular dysplasia; foot and mouth disease; f... |
| ACD | 1) Absolute Cardiac Dullness; 절대심둔탁음 2) Anemia of Chronic Disease &nbs... |
| AD | 1) Alveolar Duct 2) Autosomal Dominant 3) Auris Dextra; Ri... |
| ADCA | Autosomal Dominant Cerebellar Ataxia |
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| ADPKD | Autosomal Dominant Polycystic Kidney Disease |
| ADNFLE | Autosomal dominant nocturnal frontal lobe epilepsy |
| ADRP | Autosomal dominant retinitis pigmentosa |
| CADASIL | Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy |
| congenital dysplasia of the hip | 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) |
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| 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) |
| multiple epiphysial dysplasia | A dominantly inherited abnormality of epiphyses characterised by difficulty in walking, pain and stiffness of joints, stubby fingers, and often dwarfism of short-limb type; on X-ray examination, the epiphyses are mottled and irregular; ossification centres are late in appearance and may be multiple, but the vertebrae are normal. There is also an autosomal recessive form . Synonym: dysplasia epiphysialis multiplex. (05 Mar 2000) |
| cortical dysplasia | A malformative disorganization of the cytoarchitecture of the cortex relative to neurons. (05 Mar 2000) |
| polyostotic fibrous dysplasia | The occurrence of lesions of fibrous dysplasia in multiple bones, commonly on one side of the body; may occur with areas of pigmentation and endocrine dysfunction (McCune-Albright syndrome). Synonym: multifocal osteitis fibrosa, osteitis fibrosa disseminata. (05 Mar 2000) |
| craniocarpotarsal dysplasia | Congenital association of skeletal defects (ulnar deviation of hands with camptodactyly, talipes equinovarus, and frontal bone defects) and characteristic facies (protrusion of lips as in whistling, sunken eyes with hypertelorism, and small nose); autosomal dominant inheritance. Synonym: craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome. (05 Mar 2000) |
| craniodiaphysial dysplasia | Small stature and thickening of the cranial bones with sclerosis and diaphysial widening of tubular bones; autosomal recessive inheritance. (05 Mar 2000) |
| craniometaphysial dysplasia | Syndrome of metaphysial dysplasia associated with severe sclerosis and overgrowth of bones of the skull (leontiasis ossea) and with hypertelorism. (05 Mar 2000) |
| pseudoachondroplastic spondyloepiphysial dysplasia | A group of severe dwarfisms with short limbs, a relatively long trunk, joint laxity especially in hands and knees. Autosomal dominant and recessive forms exist. (05 Mar 2000) |
| hip dysplasia | A developmental disease of dogs in which joint instability due to disconformity of the head of the femur and the acetabulum allows excessive movement of the femoral head. (05 Mar 2000) |
| hip dysplasia, canine | A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. (12 Dec 1998) |
| septo-optic dysplasia | <radiology> Blindness, hypopituitarism, hypoplastic optic nerves, optic chiasm rotated 90 degrees, bulbous 3rd ventricle, CT findings: absent septum pellucidum, small optic nerves (12 Dec 1998) |
| skeletal dysplasia | One of a large contingent of genetic diseases in which the bony skeleton is abnormally formed during development. For example, achondroplasia (achondroplastic dwarfism). (12 Dec 1998) |
| spondyloepiphyseal dysplasia | <radiology> Autosomal dominant, retinal detachment to blindness findings: delay in ossification, vertebral bodies: decreased height, anterior hypoplasia at T-L jx, incompletely ossified odontoid process, supernumerary epihyseal ossification centres of metacarpals (especially 1st, 2nd) to excessive elongation (also in cleidocranial dysostosis), pelvis: horizontal acetabular roofs, slow ossification of acetabulum and femoral head to fossae appear empty, varus deformity of femoral neck (12 Dec 1998) |
| spondyloepiphysial dysplasia | A group of conditions characterised by growth insufficiency of the vertebral column, with flattening of vertebrae, and often involving the epiphyses at the hip and shoulder; results in dwarfism of the short trunk type, often also with short extremities, sometimes with other malformations; types with dominant, recessive [, and X-linked recessive inheritance have been described in different families. (05 Mar 2000) |