Osteogenesis imperfecta, type 19
- Synonyms
- OSTEOGENESIS IMPERFECTA, TYPE XIX
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (12 available)
Clinical features
Help- Abnormality of limbs
- Rhizomelia
Rhizomelia
- MedGen UID: 357122
- Concept ID: C1866730
- Finding: Congenital Abnormality
Abnormality of limbs
- Rhizomelia
- 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 vertebral bodies
Biconcave vertebral bodies
- MedGen UID: 383834
- Concept ID: C1856087
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the arm
Bowing of the arm
- MedGen UID: 488899
- Concept ID: C0426863
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the legs
Bowing of the legs
- MedGen UID: 1807399
- Concept ID: C5574706
- 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
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Multiple prenatal fractures
Multiple prenatal fractures
- MedGen UID: 377844
- Concept ID: C1853171
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
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
- Vertebral wedging
Vertebral wedging
- MedGen UID: 120495
- Concept ID: C0264112
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Biconcave vertebral bodies
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Severe short stature
Severe short stature
- MedGen UID: 3931
- Concept ID: C0013336
- Finding: Disease or Syndrome
Growth abnormality
- Severe 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.