Osteogenesis imperfecta with normal sclerae, dominant form
- Synonyms
- Common Variable Osteogenesis Imperfecta with Normal Sclerae; OI type 4; OI type IV; OSTEOGENESIS IMPERFECTA, TYPE IV, WITH DENTINOGENESIS IMPERFECTA; Osteogenesis Imperfecta Type IV; Osteogenesis imperfecta type 4; Osteogenesis imperfecta with normal sclerae
- 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 (115 available)
Clinical features
Help- 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
- Biconcave flattened vertebrae
Biconcave flattened vertebrae
- MedGen UID: 318956
- Concept ID: C1833753
- 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
- Dentinogenesis imperfecta
Dentinogenesis imperfecta
- MedGen UID: 8313
- Concept ID: C0011436
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time
- MedGen UID: 371642
- Concept ID: C1833754
- 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
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical 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
- Reduced bone mineral density
Reduced bone mineral density
- MedGen UID: 393152
- Concept ID: C2674432
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
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
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.