Isolated fibular hemimelia
ORPHA:93323Morphological anomalyNot applicableAntenatal
Фенотипы (HPO)47
Очень частый (80–99%)2
HP:0002991Abnormal fibula morphology
HP:0001288Gait disturbance
Частый (30–79%)8
HP:0001762Talipes equinovarus
HP:0002857Genu valgum
HP:0002982Tibial bowing
HP:0005736Short tibia
HP:0006437Disproportionate prominence of the femoral medial condyle
HP:0009826Limb undergrowth
HP:0100559Lower limb asymmetry
HP:0040069Abnormal lower limb bone morphology
Периодический (5–29%)22
HP:0001382Joint hypermobility
HP:0001376Limitation of joint mobility
HP:0001387Joint stiffness
HP:0001770Toe syndactyly
HP:0001772Talipes equinovalgus
HP:0001831Short toe
HP:0002979Bowing of the legs
HP:0003038Fibular hypoplasia
HP:0003097Short femur
HP:0003184Decreased hip abduction
HP:0003365Arthralgia of the hip
HP:0005085Limited knee flexion/extension
HP:0006101Finger syndactyly
HP:0006460Increased laxity of ankles
HP:0010219Structural foot deformity
HP:0011849Abnormal bone ossification
HP:0012165Oligodactyly
HP:0012531Pain
HP:0030043Hip subluxation
HP:0030772Proximal femoral focal deficiency
HP:0031058Impairment of activities of daily living
HP:0045086Knee joint hypermobility
Очень редкий (1–4%)15
HP:0000110Renal dysplasia
HP:0000478Abnormality of the eye
HP:0000528Anophthalmia
HP:0000593Abnormal anterior chamber morphology
HP:0001249Intellectual disability
HP:0001363Craniosynostosis
HP:0001627Abnormal heart morphology
HP:0001849Foot oligodactyly
HP:0001873Thrombocytopenia
HP:0002414Spina bifida
HP:0002990Fibular aplasia
HP:0003274Hypoplastic acetabulae
HP:0040071Abnormal morphology of ulna
HP:0100257Ectrodactyly
HP:0100656Thoracoabdominal wall defect
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.1033 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.1033 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)