| MURCS Associations | MUllerian duct aplasia, Renal aplasia, Cervico-thoracic vertebral(Somite) dysplasia Associations |
|---|---|
| VATER Associations | Vertebral defects Anal atresia Tracheo-Esophageal fistula ... |
| ACED | anhydrotic congenital ectodermal dysplasia |
| AED | antiepileptic drug; antihidrotic ectodermal dysplasia; automatic external defibrillator |
| AHD | acquired hepatocerebral degeneration; acute heart disease; antihyaluronidase; antihypertensive drug;... |
| 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) |
|---|---|
| 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) |
| 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) |