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Osteogenesis imperfecta

DA: 122




Developmental anomaly information

Definition: A genetic disorder in which osteoblasts produce defective type I collagen, leading to osteopenia, multiple fractures, severe bony deformities and considerably shortened stature. Osteogenesis imperfecta (OI) caused by mutations in the genes that codify for type I procollagen (ie, COL1A1 and COL1A2). The following 4 types of OI have been reported: Type I - Mild forms Type II - Extremely severe Type III - Severe Type IV - Undefined Precise typing is often difficult. Severity ranges from mild forms to lethal forms in the perinatal period. In addition, several syndromes resemble OI, with congenital bone fragility in association with other distinctive clinical or histologic features(Congenital brittle bones with rhizomelia; Congenital brittle bones with redundant callus formation; Osteoporosis pseudoglioma syndrome; Congenital brittle bones with craniosynostosis and ocular proptosis (Cole-Carpenter syndrome); Congenital brittle bones with joint contractures (Bruck syndrome); Congenital brittle bones with mineralization defect; Other recessive syndromes resembling osteogenesis imperfecta) .



Developmental anomaly parent: (empty)

Topology: Human body > Limbs

System: Human body > musculoskeletal system. > Bones

Developmental anomaly category: Dysplasia

Case records MDB12, MDB530
Links

Humpath: 3461

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :



Last modified: 2008-12-04 13:56:48 by farideh

Created: 2008-03-14 00:00:00 by phsaw



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