Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Dysostoses

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Dysostoses - Defective bone formation involving individual bones, singly or in combination [OCOSH Code: C05.116.099.105_bd_dbd_do]

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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
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
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
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
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
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
OCOSH Code: C05.116.099.370.894_bd_dbd_do_so

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: ...
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View Details Visit Resource Review It Rate It Bookmark It Added: Thu Nov 30 2006

Skeletal Dysplasias eMedicine

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

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...
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View Details Visit Resource Review It Rate It Bookmark It Added: Mon Dec 18 2006

Sprengel Deformity eMedicine Orthopedics

Location: http://www.emedicine.com/orthoped/topic445.htm

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...
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View Details Visit Resource Review It Rate It Bookmark It Added: Thu Apr 03 2008