OWL: OCOSH Classification/Bone Diseases/Bone Developmental Diseases/Dysostoses

Dwarfism and Dysplasias Wheeless

Wheeless — 2006-11-30 23:22:36 GMT

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 Exostoses Multiple Enchodromatosis (Ollier's Disease) Multiple Epiphyseal Dysplasia Proximal Femoral Focal Deficiency Osteogenesis Imperfecta Spondyloepiphyseal Dysplasia Congenita: - Short Trunk Dwarfism: - Kniest syndrome - Metatrophic Dysplasia - Spondyloepiphyseal dysplasias - Proportionate Dwarism: - diastrophic dysplasia, - cleidocranial dysplasia dysplasia - mucopolysaccaridoses; - Disproportionate dwarfism: (short limb dysplasia) - Achondroplasia - metaphyseal chondrodysplasias; -------------------------------------------------------------------------------- - Misc: - Rhizomelic Dwarfism: Arms or Thighs are Short relative to the entire limb - Mesomelic Dwarfism: Disproportionately Short Forearms or Legs - Acromelic Dwarfism: Disproportionately short hands or feet

Skeletal Dysplasias eMedicine

Harold Chen, MD, MS, FAAP, FACMG — 2006-12-18 23:22:36 GMT

Background: Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. Short stature is defined as height that is 3 or more standard deviations below the mean height for age. If short stature is proportional, the condition may be due to endocrine or metabolic disorders or chromosomal or nonskeletal dysplasia genetic defects. In general, patients with disproportionately short stature have skeletal dysplasia (osteochondrodysplasia). Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center

Sprengel Deformity eMedicine Orthopedics

Thacker & Feldman — 2008-04-03 23:22:36 GMT

Sprengel deformity is a complex anomaly that is associated with malposition and dysplasia of the scapula. This condition also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement.
Synonyms and related keywords: Sprengel's deformity, Sprengel anomaly, Sprengel's anomaly, congenital high scapula, congenital elevation of the scapula, failure of scapular descent, Sprengel's shoulder, Sprengel shoulder, hochgradige dislocation der scapula, high-grade dislocation of the scapula, hypoplastic scapula, elevated scapula, absent ribs, fused ribs, chest wall asymmetry, Klippel-Feil syndrome, cervical ribs, congenital scoliosis, cervical spina bifida, diastematomyelia, omovertebral bone, high shoulder, shoulder deformity, Greig syndrome, Greig cephalopolysyndactyly syndrome, GCPS, Poland syndrome, Poland anomaly, VATER association, velocardiofacial / velo-cardio-facial syndrome, VCFS, DiGeorge syndrome, floating harbor syndrome, floating-harbor syndrome, Goldenhar syndrome, oculo-auriculo-vertebral / oculoauriculovertebral syndrome, OAV syndrome, X-linked dominant hydrocephalus, skeletal anomalies, mental disturbance syndrome
Thacker & Feldman 2008