Osteogenesis imperfecta type III
- Synonyms
- OI type 3; OI type III; Osteogenesis imperfecta type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; Progressively Deforming Osteogenesis Imperfecta
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
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 (114 available)
Clinical features
Help- Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Triangular face
- Abnormality of limbs
- Protrusio acetabuli
Protrusio acetabuli
- MedGen UID: 98369
- Concept ID: C0409495
- Finding: Anatomical Abnormality
Abnormality of limbs
- Tibial bowing
Tibial bowing
- MedGen UID: 332360
- Concept ID: C1837081
- Finding: Finding
Abnormality of limbs
- Protrusio acetabuli
- Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
Pulmonary arterial hypertension
- MedGen UID: 425404
- Concept ID: C2973725
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
- 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 musculoskeletal system
- Basilar impression
Basilar impression
- MedGen UID: 1639127
- Concept ID: C4551802
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Biconcave vertebral bodies
Biconcave vertebral bodies
- MedGen UID: 383834
- Concept ID: C1856087
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures
- MedGen UID: 376722
- Concept ID: C1850178
- Finding: Finding
Abnormality of the musculoskeletal system
- Decreased calvarial ossification
Decreased calvarial ossification
- MedGen UID: 322270
- Concept ID: C1833762
- 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
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Multiple prenatal fractures
Multiple prenatal fractures
- MedGen UID: 377844
- Concept ID: C1853171
- Finding: Finding
Abnormality of the musculoskeletal system
- Platybasia
Platybasia
- MedGen UID: 45959
- Concept ID: C0032209
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Recurrent fractures
Recurrent fractures
- MedGen UID: 42094
- Concept ID: C0016655
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Severe generalized osteoporosis
Severe generalized osteoporosis
- MedGen UID: 347884
- Concept ID: C1859443
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Slender long bone
Slender long bone
- MedGen UID: 331446
- Concept ID: C1833144
- Finding: Finding
Abnormality of the musculoskeletal system
- Thin ribs
Thin ribs
- MedGen UID: 98095
- Concept ID: C0426818
- Finding: Finding
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Wormian bones
Wormian bones
- MedGen UID: 766814
- Concept ID: C3553900
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Basilar impression
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Disproportionate short-limb short stature
Disproportionate short-limb short stature
- MedGen UID: 342370
- Concept ID: C1849937
- Finding: Finding
Growth abnormality
- Neonatal short-limb short stature
Neonatal short-limb short stature
- MedGen UID: 337984
- Concept ID: C1850171
- Finding: Finding
Growth abnormality
- Disproportionate short-limb short stature
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