{"orpha":3472,"name":"Yunis-Varon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleidocranial dysplasia-micrognathia-absent thumbs syndrome"],"definition":"A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3472/","orphanet_url":"https://www.orpha.net/en/disease/detail/3472","names":{"fr":{"name":"Syndrome de Yunis-Varon","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une dysplasie cleidocranienne (fontanelles larges, dysostose calvaire, clavicules absentes ou hypoplasiques), absence des pouces et des gros orteils, hypoplasie des phalanges distales et médiales des doigts, une dysplasie pelvienne avec luxations de la hanche. La dysmorphie se manifeste par des cheveux clairsemés, des yeux globuleux, des oreilles implantées bas, des narines antéversées, une hypoplasie médiofaciale, une lèvre supérieure en forme de tente, un palais ogival et une micrognathie. Des malformations cérébrales sont fréquemment associées. Dès la naissance, les individus affectés présentent une diminution importante du tonus musculaire et un retard de développement global, ainsi que des difficultés respiratoires, des difficultés à s'alimenter et de déglutition."},"de":{"name":"Yunis-Varon-Syndrom","synonyms":["Kleidokraniale Dysplasie mit Mikrognathismus und fehlenden Daumen"],"definition":"Das Yunis-Varon-Syndrom umfasst multiple kongenitale Fehlbildungen, charakteristische Manifestationen umfassen kleidokraniale Dysplasie (breite Fontanellen, Dysostose des Schlüsselbeins, fehlende oder missgebildete Schlüsselbeine), fehlende Daumen und Großzehen, hypoplastische distale und mediale Fingerglieder sowie eine Beckendysplasie mit Hüftluxation. Zu den weiteren dysmorphen Merkmalen gehören spärliches Kopfhaar, abstehende Augen, tief angesetzte Ohren, antevertierte Nasenlöcher, Hypoplasie des Mittelgesichts, gespaltene Oberlippe, hochgewölbter Gaumen und Mikrognathie. Häufig treten auch Fehlbildungen des Gehirns auf. Von Geburt an sind die Betroffenen in der Regel deutlich hypoton und zeigen eine globale Entwicklungsverzögerung sowie Schwierigkeiten beim Atmen, Füttern und Schlucken."},"es":{"name":"Síndrome de Yunis-Varon","synonyms":["Displasia cleidocraneal-micrognatia-pulgares ausentes"],"definition":"Es un síndrome polimalformativo congénito, de origen genético y poco frecuente, caracterizado por displasia cleidocraneal (fontanelas anchas, disostosis de la bóveda craneal, clavículas ausentes o hipoplásicas), pulgares y halluces ausentes, hipoplasia de las falanges distales y medias de los dedos de la mano y displasia pélvica con luxación de cadera. Los rasgos dismórficos incluyen cabello escaso, ojos prominentes, orejas de implantación baja, narinas antevertidas, hipoplasia mediofacial, labio superior en carpa, paladar ojival y micrognatia. El síndrome asocia con frecuencia malformaciones cerebrales. Desde el nacimiento, los individuos afectos suelen manifestar una marcada hipotonía, presentándose con retraso global del desarrollo y dificultades respiratorias, en la alimentación y de la deglución."},"it":{"name":"Sindrome di Yunis-Varon","synonyms":["Displasia cleidocranica - micrognatia - agenesia dei pollici"],"definition":"Si tratta di una sindrome rara da malformazioni congenite multiple, di origine genetica, caratterizzata da displasia cleidocranica (fontanella ampia, disostosi della volta cranica, aplasia o ipoplasia delle clavicole), aplasia dei pollici e degli alluci, ipoplasia delle falangi distali e medie delle mani e displasia del bacino con lussazione dell'anca. I dismorfismi comprendono i capelli radi, gli occhi prominenti, le orecchie a basso impianto, le narici anteverse, l'ipoplasia medio-facciale, il labbro superiore \"a tenda\", il palato ogivale e la micrognazia. Spesso si osservano malformazioni cerebrali. Sin dalla nascita, i pazienti presentano marcata ipotonia, ritardo dello sviluppo globale e difficoltà respiratorie, di alimentazione e di deglutizione."},"nl":{"name":"Syndroom van Yunis-Varon","synonyms":["Cleidocraniale dysplasie - micrognathie - afwezige duimen-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale malformaties, gekarakteriseerd door cleidocraniale dysplasie (brede fontanellen, dysostose van calvaria (schedeldak), afwezige of hypoplastische claviculae), afwezigheid van duimen en grote tenen, hypoplastische distale en mediale falangen van vingers, en dysplasie van bekken met luxaties van heup. Dysmorfe kenmerken zijn onder meer schaars haar op scalp, uitpuilende ogen, laagstaande oren, anteversie van neusgaten, hypoplasie van middengezicht, tentvormige bovenlip, hoog gebogen verhemelte, en micrognathie. Hersenmalformaties zijn vaak geassocieerd. Vanaf de geboorte zijn getroffen individuen eerder significant hypotoon, en vertonen ze algehele ontwikkelingsachterstand, en moeilijkheden met ademen, voeden en slikken."},"pt":{"name":"Síndrome Yunis-Varon","synonyms":["Síndrome de displasia cleido-craniana-micrognatia-ausência de polegares"]},"pl":{"name":"Zespół Yunisa i Varona","synonyms":["Dysplazja obojczykowo-czaszkowa - małożuchwie - brak kciuków"]},"cs":{"name":"Yunisův-Varonův syndrom","synonyms":["Syndrom zahrnující kleidokraniální dysplázii, mikrognatii a absenci palců na rukou","Yunis-Varonův syndrom"]},"uk":{"name":"Синдром Юніса-Варона","synonyms":["Синдром клідокраніальної дисплазії-мікрогнатії- відсутності великих пальців"],"definition":"A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties."},"zh":{"name":"Yunis-Varon 综合征","synonyms":["锁骨颅骨发育不良-小颌-拇指缺如综合征"]},"tr":{"name":"Yunis-Varon sendromu","synonyms":["Kleidokraniyal displazi-mikrognati-başparmak yokluğu sendromu"]}},"xrefs":[{"source":"OMIM","code":"216340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.23","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1696991249"},{"source":"MONDO","code":"0008995","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536719","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857663","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93451,"name":"Cleidocranial dysplasia and isolated cranial ossification defect","classifications":[147,156,199]},{"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]}],"children":[],"genes":[{"symbol":"FIG4","name":"FIG4 phosphoinositide 5-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23623387[PMID]","hgnc":"16873","ensembl":"ENSG00000112367","omim":"609390","loci":["6q21"]},{"symbol":"VAC14","name":"VAC14 component of PIKFYVE complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28635952[PMID]","hgnc":"25507","ensembl":"ENSG00000103043","omim":"604632","loci":["16q22.1-q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"23623387[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-20","source":"7395825[PMID]_2918527[PMID]_2319578[PMID]_1533447[PMID]_8411078[PMID]_18203163[PMID]_22044576[PMID]_20932945[PMID]_24610892[PMID]_24658994[PMID]_28635952[PMID]_27292112[PMID]_23623387[PMID]","terms":[{"hpo":"HP:0009881","label":"Aplasia of the distal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010102","label":"Aplasia of the distal phalanx of the hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010107","label":"Short proximal phalanx of hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002696","label":"Abnormal parietal bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011061","label":"Abnormality of dental structure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012294","label":"Abnormality of the occipital bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006628","label":"Absent sternal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009777","label":"Absent thumb","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:0010035","label":"Aplasia of the 1st metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006710","label":"Aplasia/Hypoplasia of the clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010067","label":"Aplasia/hypoplasia of the 1st metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000216","label":"Broad secondary alveolar ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007333","label":"Hypoplasia of the frontal lobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000188","label":"Short upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005793","label":"Shortening of all distal phalanges of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010537","label":"Wide cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006713","label":"Aplasia/Hypoplasia of the scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030816","label":"Gingival recession","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012809","label":"Narrow nasal base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001920","label":"Renal artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004993","label":"Slender long bones with narrow diaphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null}]}}