Dysostoses (Subscribe)
Categories
- Focal Dermal Hypoplasia (8)
- A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. OCOSH Code C05.116.099.370.380_bd_dbd_do_fdh
- Klippel Feil Syndrome (9)
- A condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. The hairline is low and the motion of the neck is limited. OCOSH Code C05.116.099.370.535_bd_dbd_do_kf
- Orofaciodigital Syndromes (11)
- Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. OCOSH Code C05.116.099.370.652_bd_dbd_do_ofd
- Rubinstein Taybi Syndrome (2)
- A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). OCOSH Code C05.116.099.370.797_bd_dbd_do_rt
- Syndactyly (17)
- A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements. OCOSH Code C05.116.099.370.894.819_bd_dbd_do_so_sd
- Synostosis (2)
- A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. OCOSH Code C05.116.099.370.894_bd_dbd_do_so Includes - Craniosynostoses OCOSH Code C05.116.099.370.894.232_bd_dbd_do_so_cs Acrocephalosyndactylia OCOSH Code C05.116.099.370.894.232.015_bd_dbd_do_so_cs_acs
Links
Dwarfism and Dysplasias Wheeless
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;
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- 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
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
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
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
