Osteoporosis with pseudoglioma
- Synonyms
- Osteogenesis imperfecta ocular form; Osteoporosis Pseudoglioma Syndrome; Pseudoglioma with bone fragility
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Tibial bowing
Tibial bowing
- MedGen UID: 332360
- Concept ID: C1837081
- Finding: Finding
Abnormality of limbs
- Tibial bowing
- Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
- Abnormality of the eye
- Absent anterior chamber of the eye
Absent anterior chamber of the eye
- MedGen UID: 82862
- Concept ID: C0271004
- Finding: Anatomical Abnormality
Abnormality of the eye
- Blindness
Blindness
- MedGen UID: 99138
- Concept ID: C0456909
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Congenital blindness
Congenital blindness
- MedGen UID: 2288
- Concept ID: C0005754
- Finding: Congenital Abnormality
Abnormality of the eye
- Exudative retinopathy
Exudative retinopathy
- MedGen UID: 102319
- Concept ID: C0154832
- Finding: Disease or Syndrome
Abnormality of the eye
- Iris atrophy
Iris atrophy
- MedGen UID: 96095
- Concept ID: C0423319
- Finding: Disease or Syndrome
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Phthisis bulbi
Phthisis bulbi
- MedGen UID: 124382
- Concept ID: C0271007
- Finding: Finding
Abnormality of the eye
- Retinal calcification
Retinal calcification
- MedGen UID: 357948
- Concept ID: C1867289
- Finding: Finding
Abnormality of the eye
- Vitreoretinopathy
Vitreoretinopathy
- MedGen UID: 87480
- Concept ID: C0344290
- Finding: Disease or Syndrome
Abnormality of the eye
- Absent anterior chamber of the eye
- Abnormality of the musculoskeletal system
- Barrel-shaped chest
Barrel-shaped chest
- MedGen UID: 120497
- Concept ID: C0264172
- Finding: Finding
Abnormality of the musculoskeletal system
- Biconcave vertebral bodies
Biconcave vertebral bodies
- MedGen UID: 383834
- Concept ID: C1856087
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- 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
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal widening
Metaphyseal widening
- MedGen UID: 341364
- Concept ID: C1849039
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pathologic fracture
Pathologic fracture
- MedGen UID: 42095
- Concept ID: C0016663
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- 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
- Severe platyspondyly
Severe platyspondyly
- MedGen UID: 338014
- Concept ID: C1850293
- Finding: Finding
Abnormality of the musculoskeletal system
- Vertebral compression fracture
Vertebral compression fracture
- MedGen UID: 75497
- Concept ID: C0262431
- Finding: Finding
Abnormality of the musculoskeletal system
- Barrel-shaped chest
- Abnormality of the nervous system
- Focal impaired awareness seizure
Focal impaired awareness seizure
- MedGen UID: 543022
- Concept ID: C0270834
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Focal impaired awareness seizure
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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