Familial osteodysplasia, Anderson type
ORPHA:2769Malformation syndromeNeonatal
Фенотипы (HPO)31
Очень частый (80–99%)24
HP:0000272Malar flattening
HP:0000303Mandibular prognathia
HP:0000307Pointed chin
HP:0000309Abnormal midface morphology
HP:0000363Abnormality of earlobe
HP:0000414Bulbous nose
HP:0000448Prominent nose
HP:0000457Depressed nasal ridge
HP:0000574Thick eyebrow
HP:0000692Tooth malposition
HP:0000822Hypertension
HP:0002149Hyperuricemia
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0002757Recurrent fractures
HP:0002808Kyphosis
HP:0003103Abnormal cortical bone morphology
HP:0003189Long nose
HP:0005613Aplasia/hypoplasia of the femur
HP:0006352Failure of eruption of permanent teeth
HP:0006660Aplastic clavicles
HP:0009748Large earlobe
HP:0010443Bifid femur
HP:0010668Abnormal zygomatic bone morphology
Частый (30–79%)5
HP:0000670Carious teeth
HP:0000772Abnormal rib morphology
HP:0000921Missing ribs
HP:0003312Abnormal form of the vertebral bodies
HP:0004209Clinodactyly of the 5th finger
Периодический (5–29%)2
HP:0001250Seizure
HP:0003042Elbow dislocation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 4 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)