{"orpha":1927,"name":"Emery-Nelson syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hand and foot deformity-flat facies syndrome"],"definition":"A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1927/","orphanet_url":"https://www.orpha.net/en/disease/detail/1927","names":{"fr":{"name":"Syndrome d'Emery-Nelson","synonyms":["Syndrome de déformation des mains et pieds-face plate"],"definition":"Syndrome rare avec anomalie congénitale des membres caractérisé par une dysmorphie faciale (front haut, pont nasal déprimé, philtrum long, région malaire aplatie, palais ogival), une petite taille et des déformations des mains et des pieds (petites mains/petits pieds, contractures de flexion des trois premières articulations métacarpophalangiennes, contractures d'extension des pouces au niveau des articulations interphalangiennes, orteils en griffe, forme légère de pieds creux). Les autres manifestations comprennent hypotonie néonatale, peau des mains et des pieds fine et brillante, ongles striés, cheveux secs et épais, légère faiblesse du muscle orbiculaire de l'oeil et extrasystoles ventriculaires occasionnelles. Une déficience intellectuelle peut être présente. Aucun cas n'a été décrit dans la littérature depuis 1970."},"de":{"name":"Emery-Nelson-Syndrom","synonyms":["Hand- und Fußdeformitäten - flaches Gesichtsprofil"]},"es":{"name":"Síndrome de Emery-Nelson","definition":"El síndrome de Emery-Nelson es un síndrome de malformación congénita de extremidades poco frecuente caracterizado por dismorfia facial (frente alta, puente nasal deprimido, surco nasolabial largo, región malar plana, paladar ojival), talla baja y malformaciones de manos y pies (manos / pies pequeños, contracturas en flexión de las tres primeras articulaciones metacarpofalángicas, contracturas en extensión de los pulgares en las articulaciones interfalángicas, dedos en garra, pie cavo leve). Otras características adicionales incluyen hipotonía neonatal, piel de manos / pies delgada y brillante, uñas estriadas, cabello seco y grueso, leve debilidad de los músculos orbiculares de los ojos y extrasístoles ventriculares ocasionales. También puede darse discapacidad intelectual. No ha habido más casos descritos en la literatura desde 1970."},"it":{"name":"Sindrome di Emery-Nelson","synonyms":["Deformazioni delle mani e piedi - faccia piatta"],"definition":"La sindrome di Emery-Nelson è una malformazione congenita rara degli arti, caratterizzata da dismorfismi facciali (fronte alta, sella nasale infossata, filtro lungo, appiattimento della regione malare, palato ogivale), bassa statura e deformità delle mani e dei piedi (mani/piedi piccoli, contratture in flessione delle prime tre articolazioni metacarpo-falangee, contratture in estensione dei pollici a livello delle articolazioni interfalangee, dita dei piedi ad artiglio, piede cavo lieve). Altri segni clinici sono l'ipotonia neonatale, l'assottigliamento e l'aspetto lucido della cute delle mani e dei piedi, l'increspatura delle unghie, l'aspetto secco e grossolano dei capelli, la lieve debolezza dei muscoli orbitali dell'occhio e le occasionali extrasistoli ventricolari. Può associarsi a disabilità intellettiva. Non sono stati descritti nuovi casi dopo il 1970."},"nl":{"name":"Syndroom van Emery-Nelson","synonyms":["Hand- en voetmisvorming - plat gelaat-syndroom"],"definition":"Syndroom van Emery-Nelson is een zeldzaam congenitaal malformatiesyndroom van de ledematen dat gekarakteriseerd wordt faciale dysmorfie (hoog voorhoofd, ingezakte neusbrug, lang filtrum, platte jukbeenderen, hoog gebogen verhemelte), kleine gestalte en hand- en voetmisvormingen (kleine handen/voeten, flexiecontracturen van de eerste drie metacarpofalangeale gewrichten, extensiecontracturen van de duimen ter hoogte van de interfalangeale gewrichten, klauwtenen, milde pes cavus). Bijkomende kenmerken zijn onder meer neonatale hypotonie, dunne en glimmende huid aan handen/voeten, geribbelde nagels, droog en grof haar, milde zwakte van de musculus orbicularis oculi (oogkringspier) en occasioneel ventriculaire extrasystolen. Intellectuele achterstand kan aanwezig zijn. Sinds 1970 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Emery-Nelson","synonyms":["Deformação dos pés e mãos-face plana"]},"pl":{"name":"Zespół Emery'ego i Nelsona","synonyms":["Deformacja ręki i stopy - płaska twarz"]},"cs":{"name":"Emeryho-Nelsonové syndrom","synonyms":["Syndrom zahrnující deformity ruky a nohy a plochý obličej","Emery-Nelsonové syndrom"]},"uk":{"name":"Синдром Емері-Нельсона","synonyms":["Синдром деформації кистей і стоп та плоского обличчя"],"definition":"A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970."},"zh":{"name":"Emery-Nelson综合征","synonyms":["手足畸形-坪相综合征"]},"tr":{"name":"Emery-Nelson sendromu","synonyms":["El ve ayak deformitesi-düz fasiyes sendromu"]}},"xrefs":[{"source":"OMIM","code":"139750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007696","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751229","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5501704[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5501704[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009626","label":"Contractures of the interphalangeal joint of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006070","label":"Metacarpophalangeal joint contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null}]}}