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Bone Diseases, Developmental

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

Sub-Categories

Terms

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

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)....

Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...

Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...

Acro-Osteolysis - A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The...

Antley-Bixler Syndrome Phenotype - An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANI...

Basal Cell Nevus Syndrome - Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multi...

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...

Cockayne Syndrome - A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISOR...

Congenital Hypothyroidism - A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can...

Craniofacial Dysostosis - An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus...

Craniosynostoses - Premature closure of one or more sutures of the skull....

Dwarfism - A genetic or pathological condition that is characterized by short stature and undersize. Abnormal s...

Dwarfism, Pituitary - A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either th...

Dysostoses - Defective bone formation involving individual bones, singly or in combination....

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...

Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anoma...

Funnel Chest - A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed,...

Gigantism - The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to exce...

Goldenhar Syndrome - Mandibulofacial dysostosis with congenital eyelid dermoids....

Hajdu-Cheney Syndrome - Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and sk...

Hallermann's Syndrome - An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), pa...

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...

Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sph...

Klippel-Feil Syndrome - A condition characterized by shortness of the neck resulting from reduction in the number of vertebr...

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

Laron Syndrome - An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, a...

Leg Length Inequality - A condition in which one of a pair of legs fails to grow as long as the other, which could result fr...

Mandibulofacial Dysostosis - A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is charac...

Marfan Syndrome - An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, an...

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

Mulibrey Nanism - Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which ...

Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...

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...

Osteolysis, Essential - Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma...

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....

Platybasia - A developmental deformity of the occipital bone and upper end of the cervical spine, in which the la...

Poland Syndrome - A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis ...

Proteus Syndrome - Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of ...

Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...

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

Syndactyly - A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Sy...

Synostosis - A union between adjacent bones or parts of a single bone formed by osseous material, such as ossifie...

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

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

Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...

Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...