Osteogenesis imperfecta type I
- Synonyms
- Classic Non-deforming Osteogenesis Imperfecta with Blue Sclerae; Lobstein disease; Lobstein's Disease; OI type 1; OI type 1A; OI, TYPE I; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with opalescent teeth
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Robert D Steiner
- Donald Basel
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (105 available)
Clinical features
Help- Abnormality of the cardiovascular system
- Aortic aneurysm
Aortic aneurysm
- MedGen UID: 362
- Concept ID: C0003486
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral valve prolapse
Mitral valve prolapse
- MedGen UID: 7671
- Concept ID: C0026267
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic aneurysm
- Abnormality of the eye
- Blue sclerae
Blue sclerae
- MedGen UID: 154236
- Concept ID: C0542514
- Finding: Finding
Abnormality of the eye
- Blue sclerae
- Abnormality of the integument
- Bruising susceptibility
Bruising susceptibility
- MedGen UID: 140849
- Concept ID: C0423798
- Finding: Finding
Abnormality of the integument
- Thin skin
Thin skin
- MedGen UID: 140848
- Concept ID: C0423757
- Finding: Finding
Abnormality of the integument
- Bruising susceptibility
- Abnormality of the musculoskeletal system
- Biconcave flattened vertebrae
Biconcave flattened vertebrae
- MedGen UID: 318956
- Concept ID: C1833753
- Finding: Finding
Abnormality of the musculoskeletal system
- Dentinogenesis imperfecta
Dentinogenesis imperfecta
- MedGen UID: 8313
- Concept ID: C0011436
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Developmental dysplasia of the hip
Developmental dysplasia of the hip
- MedGen UID: 1640560
- Concept ID: C4551649
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Femoral bowing
Femoral bowing
- MedGen UID: 347888
- Concept ID: C1859461
- Finding: Finding
Abnormality of the musculoskeletal system
- Finger joint hypermobility
Finger joint hypermobility
- MedGen UID: 154359
- Concept ID: C0574974
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased susceptibility to fractures
Increased susceptibility to fractures
- MedGen UID: 234655
- Concept ID: C1390474
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Recurrent fractures
Recurrent fractures
- MedGen UID: 42094
- Concept ID: C0016655
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Wormian bones
Wormian bones
- MedGen UID: 766814
- Concept ID: C3553900
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Biconcave flattened vertebrae
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Otosclerosis
Otosclerosis
- MedGen UID: 10508
- Concept ID: C0029899
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Growth abnormality
Growth abnormality
- MedGen UID: 808205
- Concept ID: C0262361
- Finding: Finding
Growth abnormality
- Growth abnormality
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