Beckwith-Wiedemann syndrome
ORPHA:116Malformation syndromeAutosomal dominant, UnknownAntenatal, Neonatal
Фенотипы (HPO)85
Очень частый (80–99%)3
HP:0000098Tall stature
HP:0001520Large for gestational age
HP:0002664Neoplasm
Частый (30–79%)40
HP:0000105Enlarged kidney
HP:0000112Nephropathy
HP:0000121Nephrocalcinosis
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0000269Prominent occiput
HP:0000280Coarse facial features
HP:0000303Mandibular prognathia
HP:0000363Abnormality of earlobe
HP:0000520Proptosis
HP:0000776Congenital diaphragmatic hernia
HP:0000842Hyperinsulinemia
HP:0000995Melanocytic nevus
HP:0001052Nevus flammeus
HP:0001139Choroideremia
HP:0001513Obesity
HP:0001528Hemihypertrophy
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0001561Polyhydramnios
HP:0001582Redundant skin
HP:0001622Premature birth
HP:0001738Exocrine pancreatic insufficiency
HP:0001943Hypoglycemia
HP:0001998Neonatal hypoglycemia
HP:0002150Hypercalciuria
HP:0003271Visceromegaly
HP:0004464Postauricular pit
HP:0005616Accelerated skeletal maturation
HP:0006267Large placenta
HP:0008523Posterior helix pit
HP:0008659Multiple small medullary renal cysts
HP:0009908Anterior creases of earlobe
HP:0011417Long umbilical cord
HP:0011800Midface retrusion
HP:0030720Subchorionic septal cyst
HP:0031510Linear earlobe crease
HP:0100555Asymmetric growth
HP:0100876Infra-orbital crease
HP:0000309Abnormal midface morphology
Периодический (5–29%)39
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000073Ureteral duplication
HP:0000076Vesicoureteral reflux
HP:0000150Gonadoblastoma
HP:0000175Cleft palate
HP:0000219Thin upper lip vermilion
HP:0000239Large fontanelles
HP:0000260Wide anterior fontanel
HP:0000329Facial hemangioma
HP:0000362Otosclerosis
HP:0000787Nephrolithiasis
HP:0000821Hypothyroidism
HP:0001540Diastasis recti
HP:0001639Hypertrophic cardiomyopathy
HP:0001640Cardiomegaly
HP:0001744Splenomegaly
HP:0001901Polycythemia
HP:0002167Abnormality of speech or vocalization
HP:0002194Delayed gross motor development
HP:0002240Hepatomegaly
HP:0002667Nephroblastoma
HP:0002859Rhabdomyosarcoma
HP:0002884Hepatoblastoma
HP:0003006Neuroblastoma
HP:0005487Prominent metopic ridge
HP:0005562Multiple renal cysts
HP:0006254Elevated alpha-fetoprotein
HP:0006744Adrenocortical carcinoma
HP:0008186Adrenocortical cytomegaly
HP:0008676Congenital megaureter
HP:0008872Feeding difficulties in infancy
HP:0010535Sleep apnea
HP:0012090Abnormal pancreas morphology
HP:0012758Neurodevelopmental delay
HP:0030255Large intestinal polyposis
HP:0030680Abnormal cardiovascular system morphology
HP:0100243Leiomyosarcoma
HP:0100589Urogenital fistula
Очень редкий (1–4%)3
HP:0000365Hearing impairment
HP:0000852Pseudohypoparathyroidism
HP:0002308Chiari malformation
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.25 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.4 | Jamaica | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10 | Italy | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)