| 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;... |
| metaphysial dysplasia | An abnormality that occurs when new bone at the metaphyses of long bones fails to undergo remodeling to the normal tubular structure; the ends of long bones appear to be expanded and porotic, with thin cortex; there may be an associated overgrowth of cranial bones (craniometaphysial dysplasia). (05 Mar 2000) |
|---|---|
| chondroectodermal dysplasia | Triad of chondrodysplasia, ectodermal dysplasia, and polydactyly, with congenital heart defects in over half of patients; autosomal recessive inheritance. Synonym: Ellis-van Creveld syndrome. (05 Mar 2000) |
| cleidocranial dysplasia | <paediatrics> An inherited disorder of bone development transmitted with an autosomal dominant pattern. Characteristics include absent or incompletely formed collar bones, dental abnormalities, joint laxity and a characteristic facial appearance (heavy brow, protruding jaw, wide nasal bridge and malaligned teeth). Inheritance: autosomal dominant. Origin: Gr. Plassein = to form (27 Sep 1997) |
| Mondini dysplasia | Congenital anomaly of osseus and membranous labyrinth characterised by aplastic cochlea, and deformity of the vestibule and saemicircular canals with partial or complete loss of auditory and vestibular function; may be associated with spontaneous cerebrospinal fluid otorrhoea resulting in meningitis. See: Mondini deafness. (05 Mar 2000) |
| monostotic fibrous dysplasia | Fibrous dysplasia of a single bone. Synonym: localised osteitis fibrosa, osteitis fibrosa circumscripta. (05 Mar 2000) |
| mucoepithelial dysplasia | An epithelial cell dishesive disease characterised by red, periorificial mucosal lesions of oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa, with cataracts, follicular keratosis, non-scarring alopecia, frequent pulmonary infections, pneumothorax, and sometimes cor pulmonale; autosomal dominant inheritance. (05 Mar 2000) |
| 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) |
| congenital ectodermal dysplasia | Incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient. Synonym: congenital ectodermal dysplasia. (05 Mar 2000) |
| 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) |