{"orpha":2059,"name":"Fryns syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome"],"definition":"A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2059/","orphanet_url":"https://www.orpha.net/en/disease/detail/2059","names":{"fr":{"name":"Syndrome de Fryns","synonyms":["Syndrome de hernie diaphragmatique-dysmorphie faciale"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une hernie diaphragmatique congénitale (HDC), une hypoplasie pulmonaire, une hypoplasie des membres distaux et une dysmorphie faciale, ainsi que par d'autres anomalies congénitales d'expression inconstante."},"de":{"name":"Fryns-Syndrom","synonyms":["Zwerchfellhernie-Gesichtsdysmorphien-distale Gliedmaßenanomalien-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch eine kongenitale Zwerchfellhernie (CDH) und Lungenhypoplasie, Hypoplasie der distalen Extremitäten und Gesichtsanomalien sowie durch eine variable Ausprägung anderer angeborener Fehlbildungen gekennzeichnet ist."},"es":{"name":"Síndrome de Fryns","synonyms":["Síndrome de hernia diafragmática-dismorfia facial-anomalías de las extremidades distales"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por hernia diafragmática congénita (HDC) e hipoplasia pulmonar, hipoplasia distal de las extremidades y anomalías faciales, asociados a la expresión variable de defectos congénitos adicionales."},"it":{"name":"Sindrome di Fryns","synonyms":["Sindrome ernia diaframmatica-dismorfismi facciali-anomalie distali degli arti","Ernia diaframmatica - anomalie facciali"],"definition":"La sindrome di Fryns (FS) è una malattia rara da anomalie congenite multiple, caratterizzata da ernia diaframmatica congenita (CDH), ipoplasia polmonare, ipoplasia della porzione distale degli arti, dismorfismi facciali, e altri difetti congeniti variabili."},"nl":{"name":"Syndroom van Fryns","synonyms":["Hernia diaphragmatica - faciale dysmorfie - distale ledemaatanomalieën-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door congenitale hernia diafragmatica (CHD) en pulmonale hypoplasie, hypoplasie van distale ledematen en faciale anomalieën, bovenop variabele expressie van bijkomende geboortedefecten."},"pt":{"name":"Síndrome Fryns","synonyms":["Síndrome de hérnia diafragmática-face peculiar-anomalias distais dos membros"],"definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada por hérnia diafragmática congénita (HDC) e hipoplasia pulmonar, hipoplasia distal dos membros e anomalias faciais, além da expressão variável de defeitos congénitos adicionais."},"pl":{"name":"Zespół Frynsa","synonyms":["Przepuklina przeponowa - nieprawidłowa twarz - wady dystalnych części kończyn"]},"cs":{"name":"Frynsův syndrom","synonyms":["Syndrom zahrnující diafragmatickou hernii, abnormální obličej a anomálie distálních končetin"]},"uk":{"name":"Синдром Фрінса","synonyms":["Синдром діафрагмальної грижи - аномальних аномалій обличчя та кінцівок"],"definition":"A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects."},"zh":{"name":"Fryns综合征","synonyms":["Fryns综合征"]},"tr":{"name":"Fryns sendromu","synonyms":["Diyafragma herni-anormal yüz-distal ekstremite anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"229850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1327847749"},{"source":"MONDO","code":"0009253","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220730","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3699","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075223","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"children":[],"genes":[{"symbol":"PIGN","name":"phosphatidylinositol glycan anchor biosynthesis class N","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27038415[PMID]","hgnc":"8967","ensembl":"ENSG00000197563","omim":"606097","loci":["18q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"France","status":"Validated","source":"2650934[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Europe","status":"Validated","source":"2650934[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}