Poland syndrome
ORPHA:2911Malformation syndromeAutosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)58
Очень частый (80–99%)5
HP:0001555Asymmetry of the thorax
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0007485Absence of subcutaneous fat
HP:0009751Aplasia of the pectoralis major muscle
HP:0010311Aplasia/Hypoplasia of the breasts
Частый (30–79%)6
HP:0000089Renal hypoplasia
HP:0001155Abnormality of the hand
HP:0005255Absence of pectoralis minor muscle
HP:0006008Unilateral brachydactyly
HP:0009700Finger symphalangism
HP:0200055Small hand
Периодический (5–29%)47
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000070Ureterocele
HP:0000076Vesicoureteral reflux
HP:0000081Duplicated collecting system
HP:0000252Microcephaly
HP:0000356Abnormality of the outer ear
HP:0000470Short neck
HP:0000545Myopia
HP:0000766Abnormal sternum morphology
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0000773Short ribs
HP:0000776Congenital diaphragmatic hernia
HP:0000819Diabetes mellitus
HP:0000912Sprengel anomaly
HP:0000921Missing ribs
HP:0001156Brachydactyly
HP:0001161Hand polydactyly
HP:0001171Split hand
HP:0001392Abnormality of the liver
HP:0001631Atrial septal defect
HP:0001651Dextrocardia
HP:0002084Encephalocele
HP:0002162Low posterior hairline
HP:0002488Acute leukemia
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002814Abnormality of the lower limb
HP:0002937Hemivertebrae
HP:0002974Radioulnar synostosis
HP:0003298Spina bifida occulta
HP:0003422Vertebral segmentation defect
HP:0004050Absent hand
HP:0004349Reduced bone mineral density
HP:0006101Finger syndactyly
HP:0006501Aplasia/Hypoplasia of the radius
HP:0006714Aplasia/Hypoplasia of the sternum
HP:0007477Abnormal dermatoglyphics
HP:0008678Renal hypoplasia/aplasia
HP:0009594Retinal hamartoma
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010579Cone-shaped epiphysis
HP:0040071Abnormal morphology of ulna
HP:0100013Neoplasm of the breast
HP:0031095Abnormal humerus morphology
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.1 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Canada | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.5 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)