Clinical Signs and Symptoms
ORPHA:321 Multiple osteochondromas
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.
- Osteochondroma HP:0030431
Always present
- Abnormal bone structure HP:0003330
- Abnormal cartilage morphology HP:0002763
- Abnormal lower limb bone morphology HP:0040069
- Abnormality of femur morphology HP:0002823
- Abnormality of the knee HP:0002815
- Deformed forearm bones HP:0003959
- Functional motor deficit HP:0004302
- Limitation of joint mobility HP:0001376
- Pain HP:0012531
- Short stature HP:0004322
Frequent
- Abnormal hand morphology HP:0005922
- Abnormal morphology of ulna HP:0040071
- Abnormality of fibula morphology HP:0002991
- Abnormality of tibia morphology HP:0002992
- Arthritis HP:0001369
- Asymmetric growth HP:0100555
- Bowing of the long bones HP:0006487
- Bursitis HP:0025232
- Coxa valga HP:0002673
- Deformed radius HP:0003977
- Femoroacetabular impingement HP:0030883
- Forearm undergrowth HP:0009821
- Genu valgum HP:0002857
- Limb undergrowth HP:0009826
- Limitation of knee mobility HP:0010501
- Limited hip movement HP:0008800
- Lower limb asymmetry HP:0100559
- Metaphyseal widening HP:0003016
- Myalgia HP:0003326
- Sensory impairment HP:0003474
- Short long bone HP:0003026
- Short lower limbs HP:0006385
- Short metacarpal HP:0010049
- Tendon pain HP:0032510
Occasional
- Abnormal pelvis bone morphology HP:0040163
- Abnormality of the carpal bones HP:0001191
- Abnormality of the tarsal bones HP:0001850
- Bone fracture HP:0020110
- Cervical myelopathy HP:0002318
- Chest pain HP:0100749
- Chondrosarcoma HP:0006765
- Dysphagia HP:0002015
- Hemothorax HP:0012151
- Intestinal obstruction HP:0005214
- Peripheral nerve compression HP:0003406
- Pneumothorax HP:0002107
- Pseudoaneurysm HP:0031625
- Rib exostoses HP:0000896
- Scapular exostoses HP:0000918
- Spinal cord compression HP:0002176
- Spinal deformities HP:0008443
- Syringomyelia HP:0003396
- Talipes valgus HP:0004684
- Tethered cord HP:0002144
- Urinary retention HP:0000016
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.