Fibrous dysplasia of bone
ORPHA:249Malformation syndromeNot applicableAdolescent, Adult, Childhood
Фенотипы (HPO)62
Облигатный (100%)1
HP:0010734Fibrous dysplasia of the bones
Очень частый (80–99%)5
HP:0000929Abnormal skull morphology
HP:0002797Osteolysis
HP:0003330Abnormal bone structure
HP:0009121Abnormal axial skeleton morphology
HP:0040064Abnormality of limbs
Частый (30–79%)15
HP:0000277Abnormality of the mandible
HP:0000326Abnormality of the maxilla
HP:0002148Hypophosphatemia
HP:0002653Bone pain
HP:0002748Rickets
HP:0002753Thin bony cortex
HP:0002756Pathologic fracture
HP:0002823Abnormality of femur morphology
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0005731Cortical irregularity
HP:0006487Bowing of the long bones
HP:0010657Patchy reduction of bone mineral density
HP:0010668Abnormal zygomatic bone morphology
HP:0011821Abnormality of facial skeleton
HP:0031955Antalgic gait
Периодический (5–29%)22
HP:0031095Abnormal humerus morphology
HP:0000772Abnormal rib morphology
HP:0000889Abnormality of the clavicle
HP:0002650Scoliosis
HP:0002696Abnormal parietal bone morphology
HP:0002749Osteomalacia
HP:0002812Coxa vara
HP:0002818Abnormal morphology of the radius
HP:0002992Abnormality of tibia morphology
HP:0003319Abnormality of the cervical spine
HP:0004302Functional motor deficit
HP:0004322Short stature
HP:0006316Irregularly spaced teeth
HP:0009911Abnormal temporal bone morphology
HP:0012294Abnormality of the occipital bone
HP:0040071Abnormal morphology of ulna
HP:0040163Abnormal pelvis bone morphology
HP:0100559Lower limb asymmetry
HP:0100712Abnormal lumbar spine morphology
HP:0430000Abnormality of the frontal bone
HP:0430022Abnormality of the sphenoid sinus
HP:0001288Gait disturbance
Очень редкий (1–4%)19
HP:0000138Ovarian cyst
HP:0000365Hearing impairment
HP:0000572Visual loss
HP:0000818Abnormality of the endocrine system
HP:0000819Diabetes mellitus
HP:0000836Hyperthyroidism
HP:0000845Elevated circulating growth hormone concentration
HP:0002669Osteosarcoma
HP:0002890Thyroid carcinoma
HP:0003072Hypercalcemia
HP:0003118Increased circulating cortisol level
HP:0003401Paresthesia
HP:0005605Large cafe-au-lait macules with irregular margins
HP:0007565Multiple cafe-au-lait spots
HP:0010465Precocious puberty in females
HP:0010514Hyperpituitarism
HP:0010788Testicular neoplasm
HP:0030428Cutaneous myxoma
HP:0100013Neoplasm of the breast
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)