Dysostoses
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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 (4)
- 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 (10)
- 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 (1)
- 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
Resources
Dwarfism and Dysplasias Wheeless
Location: http://www.wheelessonline.com/ortho/dwarfism_and_dysplasiasReview It Rate It Bookmark It Added: Thu Nov 30 2006
Editors
- Chris Oliver
