Orthopedics > Orthopedic Topics > Classification of Named Conditions > Osteochondrodysplasia

Osteochondrodysplasia (Subscribe)

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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 (7): 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 (6): 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 (33) new: 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 (7) new: 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 (3): 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 (7): 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 (10): An abnormal hardening or increased density of bone tissue. OCOSH Code C05.116.099.708.702_bd_dbd_ocdys_os
Progressive Diaphyseal Dysplasia (0): 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_dysplasias

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: Hypophosphatemic Vitamin D-resistant rickets Kniest Dysplasia Marfan's Syndrome Metaphyseal Chondrodysplasia Metatrophic Dysplasia: Morquio's Syndrome: Mucopolysaccharidoses Multiple Cartilaginous ...

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, ...

Review It Rate It Bookmark It Added: Sat Nov 18 2006

Pediatrics Skeletal Dysplasia

Location: http://orthosurg.ucsf.edu/public_site/sindex.cfm?page_ID=pediatrics&article_ID=54

GENERAL PRINCIPLES OF SPINAL DEFORMITIES IN THE SKELETAL DYSPLASIAS What is skeletal dysplasia? The term skeletal dysplasia refers to a "bad formation" of the bones and joints. All the bones of the skeleton are affected: this differs from a skeletal dysostosis, in which a group of bones are affected while the remainder of the skeleton is normal. Patients with skeletal dysplasia are usually, though not always, of small stature. The small stature is disproportionate: the different parts of ...

Review It Rate It Bookmark It Added: Wed Nov 29 2006

Spondylo Epiphyseal Dysplasia SED

Location: http://www.nemours.org/internet?url=no/dysplasia/spondyloepiphyseal.html

The term ‘sphondylos’ means vertebra (Greek) and ‘epiphysis’ refers to the end of long bones that is adjacent to joints. SED principally affects the spine and the ends of long bones.

Review It Rate It Bookmark It Added: Sat Nov 18 2006

The Use of an Electronic Teaching File to Categorize the Dwarfism and Dysplasia Syndromes

Location: 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 ...