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 (10)
- 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 (6)
- 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 (11)
- 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 (40)
- 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
- Mucopolysaccharidosis (2)
- Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency
OCOSH Code: C05.116.099.708.375_bd_dbd_ocdys_MPS - Osteochondroma (25)
- 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 (36)
- 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 (54)
- 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
Resources
Dwarfism and Dysplasias Wheeless
Location: http://www.wheelessonline.com/ortho/dwarfism_and_dysplasiasView Details Visit Resource Review It Rate It Bookmark It Added: Thu Nov 30 2006
Dwarfism Short Stature
Location: http://www.kumc.edu/gec/support/dwarfism.htmlView Details Visit Resource Review It Rate It Bookmark It Added: Sat Nov 18 2006
Dysplasia Epiphysealis Hemimelica eMedicine Orthopedics
Location: http://www.emedicine.com/orthoped/topic628.htmView Details Visit Resource Review It Rate It Bookmark It Added: Sun Apr 06 2008
Pediatrics Skeletal Dysplasia
Location: http://orthosurg.ucsf.edu/public_site/sindex.cfm?page_ID=pediatrics&article_ID=54View Details Visit Resource Review It Rate It Bookmark It Added: Wed Nov 29 2006
Skeletal Dysplasias eMedicine Pediatrics
Location: http://www.emedicine.com/ped/topic625.htmView Details Visit Resource Review It Rate It Bookmark It Added: Mon Aug 06 2007
Spondylo Epiphyseal Dysplasia SED
Location: http://www.nemours.org/internet?url=no/dysplasia/spondyloepiphyseal.htmlView Details Visit Resource Review It Rate It Bookmark It Added: Sat Nov 18 2006
Spondyloepiphyseal Dysplasia eMedicine Orthopedics
Location: http://www.emedicine.com/orthoped/topic630.htmLast Updated: September 12, 2003
Synonyms and related keywords: spondyloepiphyseal dysplasia congenita, SED congenita, SEDC, Spranger-Wiedemann, spondyloepiphyseal dysplasia tarda, SED tarda, SED tardive, X-linked SED, spondyloepiphyseal dysplasia late, SEDL, SED Maroteaux type, SED tarda Toledo, SED with brachydactyly, SED tarda Namaqualand type, NSED, pseudo-Morquio disease, pseudoachondroplasia SED, short...
View Details Visit Resource Review It Rate It Bookmark It Added: Mon Aug 06 2007
Streeter Dysplasia eMedicine Orthopedics
Location: http://www.emedicine.com/orthoped/topic561.htmView Details Visit Resource Review It Rate It Bookmark It Added: Mon Apr 07 2008
The Use of an Electronic Teaching File to Categorize the Dwarfism and Dysplasia Syndromes
Location: http://www.stevensorenson.com/residents6/index.htmView Details Visit Resource Review It Rate It Bookmark It Added: Sat Nov 18 2006
Case 58. Multiple Epiphyseal Dysplasia
Location: http://gait.aidi.udel.edu/educate/medyp.htmView Details Visit Resource Review It Rate It Bookmark It Added: Mon Feb 04 2002
Skeletal Dysplasias
Location: http://www.rad.washington.edu/mskbook/Dysplasia.htmlView Details Visit Resource Review It Rate It Bookmark It Added: Thu Jan 31 2002
spondyloepiphyseal dysplasia
Location: http://chorus.rad.mcw.edu/doc/01031.htmlView Details Visit Resource Review It Rate It Bookmark It Added: Thu Jan 31 2002