Fryns syndrome
ORPHA:2059Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)15
HP:0000358Posteriorly rotated ears
HP:0000003Multicystic kidney dysplasia
HP:0000218High palate
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000776Congenital diaphragmatic hernia
HP:0001249Intellectual disability
HP:0001804Hypoplastic fingernail
HP:0002089Pulmonary hypoplasia
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0010804Tented upper lip vermilion
HP:0011344Severe global developmental delay
Частый (30–79%)20
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000161Median cleft lip
HP:0000175Cleft palate
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000474Thickened nuchal skin fold
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001561Polyhydramnios
HP:0001636Tetralogy of Fallot
HP:0001671Abnormal cardiac septum morphology
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0004209Clinodactyly of the 5th finger
HP:0006610Wide intermamillary distance
HP:0007957Corneal opacity
HP:0009882Short distal phalanx of finger
HP:0100335Non-midline cleft of the upper lip
Периодический (5–29%)16
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000568Microphthalmia
HP:0000774Narrow chest
HP:0000813Bicornuate uterus
HP:0001305Dandy-Walker malformation
HP:0001539Omphalocele
HP:0001679Abnormal aortic morphology
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002247Duodenal atresia
HP:0002251Aganglionic megacolon
HP:0002566Intestinal malrotation
HP:0004397Ectopic anus
HP:0012303Abnormal aortic arch morphology
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 | France | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 7 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)