{"orpha":3134,"name":"SCARF syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3134/","orphanet_url":"https://www.orpha.net/en/disease/detail/3134","names":{"fr":{"name":"Syndrome SCARF","definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par des anomalies du système squelettique variables (notamment craniosténose, pectus carinatum, sternum court, hyperextensibilité articulaire et anomalies vertébrales), une cutis laxa donnant lieu à des plis cutanés au niveau des joues, du menton et du cou, des organes génitaux ambigus avec un micropénis et une hypospadie périnéale, une hernie ombilicale, une déficience intellectuelle, une apparence de vieillissement prématuré et un élargissement du coeur affectant soit les ventricules, soit les oreillettes. La dysmorphie faciale est variable et peut inclure une forme inhabituelle de l'implantation des cheveux, un ptosis, une racine nasale haute et large, des oreilles décollées et un petit menton. Une hypocalcification de l'émail, une anomalie du modelage des os tubulaires et une cutis laxa peuvent se manifester plus tardivement."},"de":{"name":"SCARF-Syndrom","definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien. Es umfasst variable Skelettanomalien (einschließlich Kraniostenose, Pectus carinatum, kurzem Brustbein, Überbeweglichkeit der Gelenke und abnormalen Wirbeln), Cutis laxa mit übermäßigen Hautfalten um Wangen, Kinn und Hals, uneindeutige Genitalien mit Mikropenis und perinealer Hypospadie, eine Nabelhernie, Intelligenzminderung, vorzeitiges Altern und eine Vergrößerung des Herzens, die entweder die Ventrikel oder die Vorhöfe betrifft. Die Gesichtsdysmorphie ist variabel und kann multiple Haarwirbel, Ptosis, hohe und breite Nasenwurzel, tief angesetzte Ohren und kleines Kinn umfassen. Eine Hypokalzifizierung des Zahnschmelzes, eine abnormale Modellierung der Röhrenknochen und eine verminderte Cutis laxa können später auftreten. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome SCARF","definition":"Es un síndrome de múltiples anomalías congénitas poco frecuente caracterizado por unas anomalías esqueléticas variables (incluyendo craneosinostosis, pectus carinatum, esternón corto, hiperlaxitud articular y anomalías vertebrales), cutis laxa con exceso de pliegues cutáneos alrededor de la mejilla, la barbilla y el cuello, genitales ambiguos con micropene e hipospadia perineal, hernia umbilical, discapacidad intelectual, apariencia de envejecimiento prematuro y cardiomegalia con afectación ventricular o auricular. La dismorfia facial es variable, pudiendo incluir múltiples remolinos capilares, ptosis, raíz nasal alta y ancha, orejas de implantación baja y mentón pequeño. La hipocalcificación del esmalte, el modelado anómalo de los huesos tubulares y la reducción de la cutis laxa pueden aparecer más tarde en el curso de la enfermedad. No ha habido nuevos casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome SCARF","definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da alterazioni scheletriche (craniostenosi, pectus carinatum, sterno corto, iperlassità articolare e anomalie delle vertebre), cutis laxa con pliche cutanee ridondanti a livello delle guance, del mento e del collo, genitali ambigui con micropene e ipospadia perineale, ernia ombelicale, disabilità intellettiva, aspetto prematuramente senile e ingrossamento del cuore che interessa i ventricoli o gli atri. I pazienti presentano dismorfismi facciali variabili, che comprendono i vortici dei capelli, la ptosi, la radice del naso prominente e larga, le orecchie a basso impianto e il mento piccolo. Con il tempo, i pazienti possono presentare una ridotta calcificazione dello smalto dei denti, anomalie strutturali delle ossa tubolari e una riduzione della cutis laxa."},"nl":{"name":"SCARF-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door variabele skeletanomalieën (waaronder craniostenose, pectus carinatum (kippenborst), kort sternum, gewrichtshypermobiliteit, en abnormale wervels), cutis laxa met excessieve huidplooien rond de wang, kin en nek, ambigue genitaliën met micropenis en perineale hypospadie, hernia umbilicalis (navelbreuk), intellectuele achterstand, prematuur verouderd uiterlijk, en vergroting van hart met betrokkenheid van ofwel ventrikels ofwel atria. Faciale dysmorfie is variabel en omvat mogelijk meerdere haarwervels, ptose, hoge en brede neuswortel, laagstaande oren en kleine kin. Hypocalcificatie van tandglazuur, abnormale modellering van pijpbeenderen, en verminderde cutis laxa kunnen later merkbaar worden. Sinds 1989 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome SCARF"},"pl":{"name":"Zespół SCARF"},"cs":{"name":"SCARF syndrom"},"uk":{"name":"Синдром SCARF","definition":"A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on."},"zh":{"name":"SCARF综合征"},"tr":{"name":"SCARF sendromu"}},"xrefs":[{"source":"OMIM","code":"312830","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1075253748"},{"source":"MONDO","code":"0010728","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839321","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"247","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2596519[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2596519[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-18","source":"2596519[PMID]","terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012028","label":"Hepatocellular adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011084","label":"Hypocalcification of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000879","label":"Short sternum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null}]}}