Clinical Signs and Symptoms
ORPHA:249 Fibrous dysplasia of bone
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.
- Fibrous dysplasia of the bones HP:0010734
Always present
- Abnormal axial skeleton morphology HP:0009121
- Abnormal bone structure HP:0003330
- Abnormal skull morphology HP:0000929
- Abnormality of limbs HP:0040064
- Osteolysis HP:0002797
Very frequent
- Abnormality of facial skeleton HP:0011821
- Abnormality of femur morphology HP:0002823
- Abnormality of the mandible HP:0000277
- Abnormality of the maxilla HP:0000326
- Abnormality of the zygomatic bone HP:0010668
- Antalgic gait HP:0031955
- Bone pain HP:0002653
- Bowing of the long bones HP:0006487
- Cortical irregularity HP:0005731
- Elevated alkaline phosphatase HP:0003155
- Hypophosphatemia HP:0002148
- Patchy reduction of bone mineral density HP:0010657
- Pathologic fracture HP:0002756
- Rickets HP:0002748
- Thin bony cortex HP:0002753
Frequent
- Abnormal parietal bone morphology HP:0002696
- Abnormal pelvis bone morphology HP:0040163
- Abnormal temporal bone morphology HP:0009911
- Abnormality of the cervical spine HP:0003319
- Abnormality of the clavicle HP:0000889
- Abnormality of the frontal bone HP:0430000
- Abnormality of the humerus HP:0003063
- Abnormality of the lumbar spine HP:0100712
- Abnormality of the occipital bone HP:0012294
- Abnormality of the radius HP:0002818
- Abnormality of the ribs HP:0000772
- Abnormality of the sphenoid sinus HP:0430022
- Abnormality of the ulna HP:0002997
- Abnormality of tibia morphology HP:0002992
- Coxa vara HP:0002812
- Difficulty walking HP:0002355
- Functional motor deficit HP:0004302
- Irregularly spaced teeth HP:0006316
- Lower limb asymmetry HP:0100559
- Osteomalacia HP:0002749
- Scoliosis HP:0002650
- Short stature HP:0004322
Occasional
- Abnormality of the endocrine system HP:0000818
- Cutaneous myxoma HP:0030428
- Diabetes mellitus HP:0000819
- Growth hormone excess HP:0000845
- Hearing impairment HP:0000365
- Hypercalcemia HP:0003072
- Hyperpituitarism HP:0010514
- Hyperthyroidism HP:0000836
- Increased circulating cortisol level HP:0003118
- Large cafe-au-lait macules with irregular margins HP:0005605
- Multiple cafe-au-lait spots HP:0007565
- Neoplasm of the breast HP:0100013
- Osteosarcoma HP:0002669
- Ovarian cyst HP:0000138
- Paresthesia HP:0003401
- Precocious puberty in females HP:0010465
- Testicular neoplasm HP:0010788
- Thyroid carcinoma HP:0002890
- Visual loss HP:0000572
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.