Phenotypes associated with the disease Fibrous dysplasia of bone (ORPHA:249):
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Fibrous dysplasia of the bones (HP:0010734): Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:249)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:249)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:249)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:249)
- Abnormal axial skeleton morphology (HP:0009121): An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:249)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:249)
- Abnormal mandible morphology (HP:0000277): Any abnormality of the mandible, the bone of the lower jaw. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Abnormal maxilla morphology (HP:0000326): An abnormality of the Maxilla (upper jaw bone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Cortical irregularity (HP:0005731): An abnormal irregularity of cortical bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Patchy reduction of bone mineral density (HP:0010657): Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Abnormal zygomatic bone morphology (HP:0010668): An abnormality of the zygomatic bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Abnormal facial skeleton morphology (HP:0011821): An abnormality of one or more of the set of bones that make up the facial skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Antalgic gait (HP:0031955): To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:249)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal clavicle morphology (HP:0000889): Any abnormality of the clavicles (collar bones). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal parietal bone morphology (HP:0002696): Any abnormality of the parietal bone of the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal morphology of the radius (HP:0002818): An abnormality of the radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Irregularly spaced teeth (HP:0006316): Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal temporal bone morphology (HP:0009911): Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal occipital bone morphology (HP:0012294): Abnormality of the occipital bone of the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal lumbar spine morphology (HP:0100712): Any structural abnormality of the lumbar vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormal frontal bone morphology (HP:0430000): An abnormality of the frontal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Abnormality of the sphenoid sinus (HP:0430022): An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Elevated circulating growth hormone concentration (HP:0000845): Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Osteosarcoma (HP:0002669): A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Increased circulating cortisol level (HP:0003118): Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Large cafe-au-lait macules with irregular margins (HP:0005605): Large hypermelanotic macules with jagged borders. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Precocious puberty in females (HP:0010465): The onset of puberty before the age of 8 years in girls. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Hyperpituitarism (HP:0010514): Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Testicular neoplasm (HP:0010788): The presence of a neoplasm of the testis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Cutaneous myxoma (HP:0030428): A myxoma originating in the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Neoplasm of the breast (HP:0100013): A tumor (abnormal growth of tissue) of the breast. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:249)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:249)