| RL | radial line; radiation laboratory; reduction level; renal dysplasia-limb defects [syndrome]; resisti... |
|---|---|
| TKCR | torticollis-keloids-cryptorchidism-renal dysplasia [syndrome] |
| VACTERL | vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esoph... |
| VATER | vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia |
| CRD | carbohydrate-recognition domain; chronic renal disease; chronic respiratory disease; child restraint... |
| 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) |
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| hidrotic ectodermal dysplasia | Congenital dystrophy of the nails and hair with thickened nails and sparse or absent scalp hair; often associated with keratoderma of the palms and soles; teeth and sweat gland function are normal; autosomal dominant inheritance. (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) |
| hypohidrotic ectodermal dysplasia | A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth. Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling. Inheritance: mostly sex-linked (X chromosome). Origin: Gr. Plassein = to form (12 Nov 1997) |
| 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) |
| neuronal intestinal dysplasia | Increased numbers of ganglion cells with myenteric plexus hyperplasia and increased acetylcholinesterase activity in nerves of the mucosa and submucosa. Clinically, neuronal hyperplasia mimics Hirschprung's disease. Similar findings are seen in patients with multiple endocrine neoplasia syndrome, type IIB, and in neurofibromatosis. Synonym: hyperganglionosis, neuronal intestinal dysplasia. (05 Mar 2000) |
| dentin dysplasia | An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (12 Dec 1998) |
| diaphyseal dysplasia, progressive | Progressive thickening of diaphyseal cortex of long bones. (12 Dec 1998) |
| diaphysial dysplasia | Progressive, symmetrical fusiform enlargement of the shafts of long bones characterised by the formation of excessive new periosteal and endosteal bone and irregular conversion of this cortical bone into cancellous bone; anaemia does not occur as a rule, as in osteopetrosis. Synonym: Engelmann's disease. (05 Mar 2000) |
| dysplasia | <embryology> Abnormality of development, in pathology, alteration in size, shape and organisation of adult cells. Origin: Gr. Plassein = to form (18 Nov 1997) |
| dysplasia epiphysialis hemimelia | A congenital maldevelopment and overgrowth of a tarsal or carpal bone. Synonym: dysplasia epiphysialis hemimelia. Origin: tarso-+ G. Megas, large (05 Mar 2000) |