Osteochondrodysplasia
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Categories
- Acquired Hyperostosis Syndrome (9)
- Syndrome consisting of synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis (SAPHO). The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
Synonyms
SAPHO Syndrome
OCOSH Code C05.116.099.708.800_bd_dbd_ocdys_ahs
- Chondrodysplasia Punctata (15)
- A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
OCOSH Code C05.116.099.708.195_bd_dbd_ocdys_cp
- Cleidocranial Dysplasia (7)
- A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies.
OCOSH Code C05.116.099.708.207_bd_dbd_ocdys_cd
- Congenital Cortical Hyperostosis (8)
- Synonyms
Caffey De Toni Silvermann Syndrome
A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation.
OCOSH Code C05.116.099.708.479_bd_dbd_ocdys_cch
- Ellis Van Creveld Syndrom (5)
- Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum.
OCOSH Code C05.116.099.708.327_bd_dbd_ocdys_evc
- Enchondromatosis (9)
- Benign growths of cartilage in the metaphyses of several bones.
OCOSH Code C05.116.099.708.338_bd_dbd_ocdys_ec
- Fibrous Dysplasia of Bone (39)
- A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).
OCOSH Code C05.116.099.708.375_bd_dbd_ocdys_fd
- Langer Giedion Syndrome (8)
- Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses
Synonyms
Acrodysplasia V
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
OCOSH Code C05.116.099.708.582_bd_dbd_ocdys_lg
- Osteochondroma (22)
- A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors.
Synonyms
Osteocartilaginous Exostosis
Chondrosteoma
OCOSH Code C05.116.099.708.670_bd_dbd_ocdys_oc
- Osteogenesis Imperfecta (32)
- Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.
Synonyms
Fragilitas Ossium
Lobstein's Disease
Brittle Bones Disease
OCOSH Code C05.116.099.708.685_bd_dbd_ocdys_oi
- Osteosclerosis (48)
- An abnormal hardening or increased density of bone tissue.
OCOSH Code C05.116.099.708.702_bd_dbd_ocdys_os
- Progressive Diaphyseal Dysplasia (13)
- Progressive thickening of diaphyseal cortex of long bones
Synonyms
Camurati-Engelmann Syndrome, Engelmann Disease
OCOSH Code C05.116.099.708.281_bd_dbd_ocdys_dd
Links
URL:http://www.kumc.edu/gec/support/dwarfism.html
Resources for -
Skeletal Dysplasias, Achondroplasia, Jeune Syndrome [Asphyxiating Thoracic Dystrophy], multiple exostoses, hormonal short stature, Cartilage-hair hypoplasia, [CHH, Metaphyseal chondrodysplasia, McKusick-type], Chondroectodermal dysplasia, Ellis-van Creveld syndrome, Congenital adrenal hyperplasia, DeMorsier syndrome [Septo optic dysplasia], Diastrophic dysplasia, Ellis-van Creveld syndrome [EvC], Growth-hormone deficiency, Hypochondrogenesis, Hypochondroplasia, Hypopituitarism, Growth-hormone deficiency, Hypopituitary...
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URL:http://www.stevensorenson.com/residents6/index.htm
Extensive illustrated discussion of dwarfism and dysplasias. Conditions described include
Thanatophoric dwarfism
Achondroplasia
Chondrodysplasia punctata
Diastrophic dwarfism
Dyschondrosteoses
Asphyxiating thoracic dystrophy
Pyknodysostosis
Chondrodysplasia punctata
Osteogenesis imperfecta
Neurofibromatosis
Mucopolysaccharide disorders
Ollier disease
Multiple hereditary exostoses
Proximal focal femoral deficiency
Cleidocranial dysostosis
Osteopetrosis
Osteopoikilosis
Osteopathia striata
Melorheostosis
Camurati-Englemann disease
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