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Osteochondrodysplasias

Categorical breakdown of terms falling inder the category of Osteochondrodysplasias. Sub categories will become more specific in nature to the terms listed for Osteochondrodysplasias.

Sub-Categories

Terms

Achondroplasia - An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected indiv...

Acquired Hyperostosis Syndrome - Syndrome consisting of synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis (SAPHO)....

Camurati-Engelmann Syndrome - An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphysea...

Cherubism - A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic app...

Chondrodysplasia Punctata - A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyse...

Chondrodysplasia Punctata, Rhizomelic - An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen bios...

Cleidocranial Dysplasia - A rare autosomal dominant condition in which there is defective ossification of the cranial bones wi...

Ellis-Van Creveld Syndrome - Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, ...

Enchondromatosis - Benign growths of cartilage in the metaphyses of several bones....

Exostoses, Multiple Hereditary - Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostose...

Fibrous Dysplasia of Bone - A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous ...

Fibrous Dysplasia, Monostotic - FIBROUS DYSPLASIA OF BONE involving only one bone....

Fibrous Dysplasia, Polyostotic - FIBROUS DYSPLASIA OF BONE affecting several or many bones. When associated with melanotic pigmentati...

Hyperostosis Frontalis Interna - Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and o...

Hyperostosis, Cortical, Congenital - A disease of young infants characterized by soft tissue swellings over the affected bones, fever, an...

Langer-Giedion Syndrome - Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartila...

Melorheostosis - A form of osteosclerosis or hyperostosis extending in a linear track through one of the long bones o...

Osteochondrodysplasias - Abnormal development of cartilage and bone....

Osteochondroma - A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably...

Osteochondromatosis - A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)...

Osteogenesis Imperfecta - Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and ch...

Osteopetrosis - Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGA...

Osteopoikilosis - An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metap...

Osteosclerosis - An abnormal hardening or increased density of bone tissue....

Short Rib-Polydactyly Syndrome - A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features a...

Thanatophoric Dysplasia - A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in t...