Clinical Signs and Symptoms
ORPHA:666 Osteogenesis imperfecta
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of dental color HP:0011073
- Abnormality of dental enamel HP:0000682
- Abnormality of the metaphysis HP:0000944
- Abnormality of the ribs HP:0000772
- Abnormality of tibia morphology HP:0002992
- Brachycephaly HP:0000248
- Carious teeth HP:0000670
- Convex nasal ridge HP:0000444
- Decreased skull ossification HP:0004331
- Diaphyseal thickening HP:0005019
- Gait disturbance HP:0001288
- Intrauterine growth retardation HP:0001511
- Macrocephaly HP:0000256
- Micrognathia HP:0000347
- Mixed hearing impairment HP:0000410
- Pectus carinatum HP:0000768
- Prominent occiput HP:0000269
- Thin ribs HP:0000883
Very frequent
- Abnormal cortical bone morphology HP:0003103
- Abnormal form of the vertebral bodies HP:0003312
- Abnormality of femur morphology HP:0002823
- Abnormality of long bone morphology HP:0011314
- Abnormality of the dentition HP:0000164
- Abnormality of the hip bone HP:0003272
- Biconcave vertebral bodies HP:0004586
- Blue sclerae HP:0000592
- Bone pain HP:0002653
- Corneal opacity HP:0007957
- Cutis laxa HP:0000973
- Dental malocclusion HP:0000689
- Dentinogenesis imperfecta HP:0000703
- Enlarged vertebral pedicles HP:0004621
- Femoral bowing HP:0002980
- Fractures of the long bones HP:0003084
- Genu valgum HP:0002857
- Glaucoma HP:0000501
- Hypercalciuria HP:0002150
- Hyperhidrosis HP:0000975
- Increased susceptibility to fractures HP:0002659
- Joint hyperflexibility HP:0005692
- Joint hypermobility HP:0001382
- Large fontanelles HP:0000239
- Loss of ability to walk HP:0006957
- Malformation of the heart and great vessels HP:0002564
- Multiple rib fractures HP:0006640
- Narrow chest HP:0000774
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Progressive hearing impairment HP:0001730
- Recurrent fractures HP:0002757
- Short stature HP:0004322
- Slender long bone HP:0003100
- Vertebral compression fractures HP:0002953
- Visual impairment HP:0000505
Frequent
- Abnormality of the endocardium HP:0004306
- Arthralgia HP:0002829
- Bowing of the long bones HP:0006487
- Bruising susceptibility HP:0000978
- Calcification of the interosseus membrane of the forearm HP:0030267
- Constipation HP:0002019
- Delayed eruption of teeth HP:0000684
- Dislocated radial head HP:0003083
- Dysphagia HP:0002015
- Flexion contracture HP:0001371
- Growth delay HP:0001510
- Hearing impairment HP:0000365
- Hyperplastic callus formation HP:0030268
- Inguinal hernia HP:0000023
- Intestinal obstruction HP:0005214
- Kyphosis HP:0002808
- Micromelia HP:0002983
- Morphological abnormality of the central nervous system HP:0002011
- Nephrolithiasis HP:0000787
- Osteoarthritis HP:0002758
- Paresthesia HP:0003401
- Pectus excavatum HP:0000767
- Protrusio acetabuli HP:0003179
- Relative macrocephaly HP:0004482
- Scoliosis HP:0002650
- Sensory impairment HP:0003474
- Small for gestational age HP:0001518
- Thrombocytopenia HP:0001873
- Triangular face HP:0000325
- Trigeminal neuralgia HP:0100661
- Umbilical hernia HP:0001537
- Ventriculomegaly HP:0002119
- Visceral angiomatosis HP:0100761
- Wormian bones HP:0002645
Occasional
- Aortic aneurysm HP:0004942
- Aortic dissection HP:0002647
- Aortic regurgitation HP:0001659
- Aortic root aneurysm HP:0002616
- Arterial dissection HP:0005294
- Ataxia HP:0001251
- Basilar invagination HP:0012366
- Brain stem compression HP:0002512
- Cerebral hemorrhage HP:0001342
- Cervical kyphosis HP:0002947
- Cranial nerve paralysis HP:0006824
- Headache HP:0002315
- Hydrocephalus HP:0000238
- Mitral valve prolapse HP:0001634
- Neonatal respiratory distress HP:0002643
- Noncommunicating hydrocephalus HP:0010953
- Nystagmus HP:0000639
- Pulmonary hypoplasia HP:0002089
- Rhizomelia HP:0008905
- Syringomyelia HP:0003396
- Tetraparesis HP:0002273
- Thoracic hypoplasia HP:0005257
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.