Osteogenesis Imperfecta (definition)

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Osteogenesis Imperfecta

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Definition: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

See Also Collagen Type I; Dentinogenesis Imperfecta

Other names Lobstein Disease; Fragilitas Ossium; Osteogenesis Imperfecta Tardas; Ossiums, Fragilitas; Lobsteins Disease; Disease, Lobstein's; Disease, Lobstein; Osteogenesis Imperfecta, Type 1; Osteogenesis Imperfecta with Blue Sclerae; Osteogenesis Imperfecta Tarda; Lobstein's Disease

Substance	Categories	Source
Osteogenesis imperfecta congenita, microcephaly, and cataracts	Cataract Microcephaly *Osteogenesis Imperfecta.
Bruck syndrome 2	Arthrogryposis Osteogenesis Imperfecta.
Bruck syndrome 1	Arthrogryposis Osteogenesis Imperfecta.
Grant syndrome	Abnormalities, Multiple Osteogenesis Imperfecta *Craniofacial Abnormalities.	Clin Genet. 1986;29(6):523-9
Lowry Maclean syndrome	Abnormalities, Multiple Cleft Palate Craniosynostoses Diaphragmatic Eventration Glaucoma Growth Disorders Heart Defects, Congenital Intellectual Disability *Osteogenesis Imperfecta.
Osteoporosis-pseudoglioma syndrome	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type VIII	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 7	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 6	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 5	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 4	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 3	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 2B	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 2A	*Osteogenesis Imperfecta.
Osteogenesis imperfecta, type 1A	Dentinogenesis Imperfecta Osteogenesis Imperfecta.
Osteogenesis imperfecta, Levin type	*Osteogenesis Imperfecta.
Cole Carpenter syndrome	Craniosynostoses Eye Abnormalities Hydrocephalus Osteogenesis Imperfecta.
Al Gazali Sabrinathan Nair syndrome	Optic Atrophy Osteogenesis Imperfecta *Retinal Diseases Developmental Disabilities.
Astley-Kendall syndrome	Chondrodysplasia Punctata Dwarfism *Osteogenesis Imperfecta.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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