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Resources related to Osteochondrodysplasia
[OCOSH Code: D010009 105985007 Q77 bd_dbd_ocdys]

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Acquired Hyperostosis Syndrome (8)
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.
MeSH Term "Acquired Hyperostosis Syndrome"[mesh]
ICD-10 Code M85.8 Other specified disorders of bone density and structure
SNOMED-CT Term Synovitis acne pustulosis hyperostosis osteomyelitis syndrome (disorder) Concept ID: 60684003 Synonyms - SAPHO Syndrome
Synovitis acne pustulosis hyperostosis osteomyelitis syndrome (disorder)
SAPHO - Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Synovitis acne pustulosis hyperostosis osteomyelitis syndrome
OCOSH Code: D020083 60684003 M85.8 bd_dbd_ocdys_ahs
Chondrodysplasia Punctata (13)
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.
MeSH Term "Chondrodysplasia Punctata"[mesh]
ICD-10 code Q77.3 Chondrodysplasia punctata
SNOMED-CT term Chondrodysplasia punctata (disorder) Concept ID: 205486004
OCOSH Code: D002806 205486004 Q77.3 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.
MeSH Term "Cleidocranial Dysplasia"[mesh]
ICD-10 Code Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle. (Cleidocranial dysostosis)
SNOMED-CT term Cleidocranial dysostosis (disorder) Concept ID: 65976001
Synonyms - Cleidocranial dysostosis
Cleidocranial dysplasia
Cleidocranial dysostosis (disorder)
CCD - Cleidocranial dysplasia
CLCD - Cleidocranial dysplasia
OCOSH Code: D002973 65976001 Q74.0 BD_DBD_OCDYS_CD
Congenital Cortical Hyperostosis (12)
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.
MeSH Term "Hyperostosis, Cortical, Congenital"[mesh]
ICD-10 Code M89.8 Other specified disorders of bone (Infantile cortical hyperostoses)
SNOMED-CT Term Infantile cortical hyperostosis (disorder) Concept ID: 24752008
Synonyms - Infantile cortical hyperostosis
Caffey's disease
Infantile cortical hyperostosis (disorder)
Familial infantile cortical hyperostosis
Caffey syndrome
Caffey disease
OCOSH Code: D006958 24752008 M89.8 BD_DBD_OCDYS_CCH
Ellis -van Creveld Syndrome (5)
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum.
MeSH Term "Ellis-Van Creveld Syndrome"[mesh]
ICD-10 Code Q77.6 Chondroectodermal dysplasia
SNOMED-CT term Chondroectodermal dysplasia (disorder) Concept ID: 62501005
Synonyms - Chondroectodermal dysplasia
Ellis-van Creveld syndrome
Chondroectodermal dysplasia (disorder)
EVC - Ellis-van Creveld syndrome
OCOSH Code: D004613 62501005 Q77.6 BD_DBD_OCDYS_EVC
Enchondromatosis (13)
Benign growths of cartilage in the metaphyses of several bones.
MeSH Term "Enchondromatosis"[mesh]
ICD-10 Code Q78.4 Enchondromatosis
SNOMED-CT term Enchondromatosis (disorder) Concept ID: 268274005
Synonyms - Multiple enchondromata
Congenital enchondromatosis
Ollier disease
Ollier's disease
Enchondromatosis (disorder)
OCOSH Code: D004687 268274005 Q78.4 BD_DBD_OCDYS_EC
Fibrous Dysplasia of Bone (37)
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).
MeSH Term "Fibrous Dysplasia of Bone"[mesh]
ICD-10 Code M85 Other disorders of bone density and structure
SNOMED-CT Term Fibrous dysplasia of bone (disorder) Concept ID: 10623005>br>Synonyms - Fibrous dysplasia of bone
Osteitis fibrosa
Fibrous dysplasia of bone (disorder)
OCOSH Code: D005357 10623005 M85 BD_DBD_OCDYS_FD
Langer Giedion Syndrome (5)
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
MeSH Term "Langer-Giedion Syndrome"[mesh]
ICD-10 Code Q78.4 Enchondromatosis
SNOMED-CT Term Langer-Giedion syndrome (disorder) Concept ID: 41069008
Acrodysplasia V
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Langer-Giedion syndrome
Trichorhinophalangeal syndrome with exostosis
Langer-Giedion syndrome (disorder)
Trichorhinophalangeal syndrome II
TRPS II - Trichorhinophalangeal syndrome II
OCOSH Code: D015826 41069008 Q78.4 BD_DBD_OCDYS_LG
Mucopolysaccharidosis (7)
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.
MeSH Term "Mucopolysaccharidoses"[mesh]
ICD-10 Code E76 Disorders of glycosaminoglycan metabolism
SNOMED-CT Term Mucopolysaccharidosis (disorder) Concept ID: 11380006
Synonyms - Mucopolysaccharidosis
MPS - Mucopolysaccharidosis
Mucopolysaccharidosis (disorder)
OCOSH Code: D009083 11380006 E76 BD_DBD_OCDYS_MPS
Osteochondroma (27)
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.
MeSH Term "Osteochondroma"[mesh]
ICD-10 Code M9210/0 Osteochondroma (D16.-)
SNOMED-CT Term Osteochondroma of bone (disorder) Concept ID: 307606005
Osteocartilaginous Exostosis
OCOSH Code: D015831 307606005 M9210/0 BD_DBD_OCDYS_OC
Osteogenesis Imperfecta (34)
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
MeSH Term "Osteogenesis Imperfecta"[MESH]
ICD-10 Code Q78.0
SNOMED-CT Term Osteogenesis imperfecta (disorder) Concept ID: 78314001
Synonyms Osteogenesis imperfecta
Fragilitas ossium
Brittle bone syndrome
Brittle bone disease
OI - Osteogenesis imperfecta
Osteogenesis imperfecta (disorder)
OCOSH Code: D010013 78314001 Q78.0 BD_BDB_OCDYS_OI
Osteosclerosis (54)
An abnormal hardening or increased density of bone tissue.
MeSH Term "Osteosclerosis"[mesh]
ICD-10 Code Q78 Other osteochondrodysplasias
SNOMED-CT term Osteosclerosis (disorder) Concept ID: 49347007
OCOSH Code: D010026 49347007 Q78 BD_DBD_OCDYS_OS
Progressive Diaphyseal Dysplasia (8)
Progressive thickening of diaphyseal cortex of long bones
MeSH Term "Camurati-Engelmann Syndrome"[mesh]
ICD-10 Code Q78.3 Progressive diaphyseal dysplasia
SNOMED-CT term Diaphyseal dysplasia (disorder) Concept ID: 34643004
Engelmann Disease
Diaphyseal dysplasia
Diaphyseal sclerosis
Osteopathia hyperostotica multiplex infantis
Engelmann syndrome
Engelman's disease
Camurati-Engelmann syndrome
Diaphyseal dysplasia (disorder)
OCOSH Code: D003966 34643004 Q78.3 BD_DBD_OCDYS_DD


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Dwarfism and Dysplasias Wheeless

Location: http://www.wheelessonline.com/ortho/dwarfism_and_dysplasias

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: ...

View 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.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...

View 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.htm

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare developmental disorder affecting the epiphyses in young children. The first report of DEH in the literature was by Mouchet and Belt in 1926, who described the condition as a tarsal bone disorder and used the term tarsomegalie. In 1950, Trevor...

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metaphyseal dysplasia (Pyle disease) CHORUS

Location: http://chorus.rad.mcw.edu/doc/00264.html

a/k/a: craniometaphyseal dysplasia
* autosomal recessive
* failure of modeling of cylindrical bones
* "Erlenmeyer flask" appearance of metaepiphyses

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Multiple epiphyseal dysplasia in children

Location: http://www.cma.ca/multimedia/staticContent/HTML/N0/l2/cjs/vol-48/issue-2/pdf/pg106.pdf

CONCLUSION: Although multiple epiphyseal dysplasia is a disease of childhood, it is seldom severe enough to require operative intervention in the initial 2 decades of life.
Multiple epiphyseal dysplasia in children: beware of overtreatment! Bajuifer S, Letts M. Can J Surg. 2005 Apr;48(2):106-9. Full text

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Multiple Epiphyseal Dysplasia POSNA Study Guide

Location: http://www.posna.org/education/StudyGuide/multipleEpiphysealDysplasia.asp

1. Describe clinical features suggestive of MED
2. Describe orthopaedic problems related to MED
3. Describe a method of obtaining immediate further information on the osteochondrodysplasias

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pyknodysostosis CHORUS

Location: http://chorus.rad.mcw.edu/doc/00343.html

* autosomal recessive
* dense, sclerotic bones [Cf: osteopetrosis (sporadic, not inherited)]
* open cranial sutures + fontanelles
* Wormian bones
* dolichocephaly
* sclerotic vertebrae
* fractured long bones
* short, stubby hands
* partial agenesis/aplasia of terminal phalanges [simulates acro-osteolysis]

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Radiology Cases Dyschondroplasia

Location: http://myweb.lsbu.ac.uk/dirt/museum/p4-154.html

Dyschondroplasia and dysplasia involving epiphyseal plate
The grouping comprises those congenital conditions that are associated with persistence or metaplasia of the original bone matrix to form rests of cartilage within or on the surface of a bone. The listing includes: Diaphyseal aclasis, Dysplasia epiphysialis hemimelica, enchondromatosis and its variants. I have...

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Shoulder Arthrodesis for Spondylo-epiphyseal Dysplasia

Location: http://www.orthop.washington.edu/uw/shoulderand/tabID__3376/ItemID__273/PageID__633/Articles/Default ...

Clinical presentation of a 70 year old woman with spondylo-epiphyseal dysplasia who has had severe limitation of her right shoulder motion since birth. Over the last few years she has progressively experienced severe pain which prevents her from using this arm and from sleeping. She also uses a wheel chair...

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Skeletal Dysplasias

Location: http://www.rad.washington.edu/academics/academic-sections/msk/teaching-materials/online-musculoskele ...

Although many dysplasias are quite rare, some occur with sufficient frequency that most general practice radiologists will see them and should know something about them. This chapter gives an extremely simplified meatball approach to the diagnosis of these more common disorders. You won't find rare syndromes such as bird-headed dwarvism...

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Skeletal Dysplasias eMedicine Pediatrics

Location: http://www.emedicine.com/ped/topic625.htm

Synonyms and related keywords: skeletal dysplasia, disproportional short stature, short stature, dwarfism, osteochondrodysplasias, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, achondrogenesis, chondrodysplasia punctata, homozygous achondroplasia, chondrodysplasia punctata, camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, short-rib polydactyly syndromes, hypochondroplasia, rhizomelic type of chondrodysplasia punctata, Jansen-type metaphyseal dysplasia, spondyloepiphyseal dysplasia...

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spondyloepiphyseal dysplasia CHORUS

Location: http://chorus.rad.mcw.edu/doc/01031.html

* autosomal dominant
* retinal detachment -> blindness
  1. delay in ossification
  2. vertebral bodies: decreased height, anterior hypoplasia at T-L jx
  3. incompletely ossified odontoid process
  4. supernumerary epihyseal ossification centers of metacarpals (esp. 1st, 2nd) -> excessive elongation (also in cleidocranial dysostosis)
  5. pelvis: horizontal acetabular roofs, slow ossification...

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Spondyloepiphyseal Dysplasia eMedicine Orthopedics

Location: http://www.emedicine.com/orthoped/topic630.htm

Spondyloepiphyseal Dysplasia
Last 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...

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Spondyloepiphyseal Dysplasia SED POSNA Study Guide

Location: http://www.posna.org/education/StudyGuide/spondyloepiphysealDysplasia.asp

1. Describe the two types of SED
2. Describe clinical features of each type
3. Describe the cervical spine pathology associated with SED congenita

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