{"orpha":1555,"name":"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Beare-Stevenson cutis gyrata syndrome"],"definition":"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1555/","orphanet_url":"https://www.orpha.net/en/disease/detail/1555","names":{"fr":{"name":"Syndrome de cutis gyrata-acanthosis nigricans-craniosynostose","synonyms":["Syndrome de Beare-Stevenson"],"definition":"Forme sévère de craniosynostose syndromique également connue sous le nom de syndrome de Beare-Stevenson (SBS), caractérisée par une craniosynostose de degré variable, avec un crâne en trèfle dans plus de 50&nbsp;% des cas, un cutis gyrata, des stries linéaires disposées en rangs sur la peau, un acanthosis nigricans, des appendices cutanés et une sténose ou une atrésie des choanes. Parmi les autres caractéristiques figurent des traits faciaux similaires à ceux de la maladie de Crouzon, des anomalies de l'oreille (surdité de transmission, oreilles orientées vers l'arrière, sténose des conduits auditifs, fistules préauriculaires et conduits auditifs étroits), l'hirsutisme, un cordon ombilical proéminent et des anomalies génito-urinaires (antéposition anale, lèvres hypoplasiques, hypospadias). Le SBS est associé à un pronostic défavorable, les patients présentant un risque élevé de mort subite au cours de leur première année de vie. Un retard de développement important et une déficience intellectuelle sont observés chez la plupart des patients qui survivent à l'enfance."},"de":{"name":"Cutis gyrata-Acanthosis nigricans-Kraniosynostose-Syndrom","synonyms":["Beare-Stevenson-Cutis gyrata-Syndrom"],"definition":"Das Cutis gyrata-Acanthosis nigricans-Kraniosynostose-Syndrom, auch bekannt als Beare-Stevenson-Syndrom (BSS), ist eine schwere Form der syndromalen Kraniosynostose, die durch einen unterschiedlichen Grad an Kraniosynostose (in über 50% der Fälle ein Kleeblattschädel), Cutis gyrata, Cord-ähnliche lineare Streifen in der Haut, Acanthosis nigricans, Hautanhängsel und Choanalstenose oder Atresie gekennzeichnet ist. Weitere Merkmale sind charakteristische Gesichtszüge (ähnlich des Crouzon-Syndroms), Ohrdefekte (Schallleitungsschwerhörigkeit, nach hinten abgewinkelte Ohren, stenotische Gehörgänge, präaurikuläre Furchen und enge Ohrkanäle), Hirsutismus, ein markanter Nabelstumpf und urogenitale Anomalien (anterior platzierter Anus, hypoplastische Schamlippen, Hypospadie). BSS ist mit einer schlechten Prognose verbunden, da die Patienten ein erhöhtes Risiko für einen plötzlichen Tod im ersten Lebensjahr aufweisen. Bei den meisten Patienten, die die Säuglingszeit überleben, werden erhebliche Entwicklungsverzögerungen und Intelligenzminderung beobachtet."},"es":{"name":"Síndrome de cutis gyrata-acantosis nigricans-craneosinostosis","synonyms":["Síndrome cutis gyrata de Beare-Stevenson"],"definition":"Es una forma grave de craneosinostosis sindrómica caracterizada por un grado variable de craneosinostosis, con cráneo en trébol en más del 50% de los casos descritos, cutis gyrata, estrías lineales en la piel ''tipo pana'', <i>acantosis nigricans</i> papiloma cutáneo y estenosis o atresia de coanas. Otras características adicionales incluyen rasgos faciales similares a la enfermedad de Crouzon, defectos de los oídos (hipoacusia de conducción, orejas rotadas hacia atrás, canales semicirculares estenóticos, surcos preauriculares y canales auditivos estrechos), hirsutismo, muñón umbilical prominente y anomalías genitorurinarias (ano anterior, labios hipoplásicos, hipospadias). El BSS se asocia a un pronóstico desfavorable ya que los afectados presentan un riesgo elevado de muerte súbita durante el primer año de vida. En la mayoría de pacientes que sobreviven a la lactancia, se observa un retraso psicomotor/discapacidad intelectual significativos."},"it":{"name":"Cutis gyrata - acanthosis nigricans - craniosinostosi","synonyms":["Sindrome da cutis gyrata di Beare-Stevenson"],"definition":"La cutis girata-acanthosis nigricans-craniosinostosi, nota anche come sindrome di Beare-Stevenson (BSS), è una forma grave di craniosinostosi sindromica caratterizzata da craniosinostosi di grado variabile, associata a cranio a trifoglio (50% dei casi), cutis girata, striature lineari della cute che ricordano quelle del velluto a coste, acanthosis nigricans, appendici cutanee e stenosi o atresia delle coane. Possono essere presenti anche dismorfismi facciali simili a quelli della malattia di Crouzon, anomalie dell'orecchio (sordità di conduzione, orecchie retroruotate, stenosi dei canali uditivi, solchi preauricolari, canali auricolari stretti), irsutismo, ombelico prominente e anomalie genito-urinarie (ano anteriorizzato, ipoplasia delle labbra, ipospadia). L'esito della malattia è sfavorevole in quanto i pazienti presentano un rischio elevato di morte improvvisa nel primo anno di vita. Nella maggior parte dei pazienti che superano l'infanzia, si osservano grave ritardo dello sviluppo e disabilità intellettiva."},"nl":{"name":"Cutis gyrata - acanthosis nigricans - craniosynostose-syndroom","synonyms":["Beare-Stevenson cutis gyrata-syndroom"],"definition":"Cutis gyrata - acanthosis nigricans - craniosynostose-syndroom, ook wel bekend als syndroom van Beare-Stevenson (BSS), is een ernstige vorm van syndromale craniosynostose die wordt gekarakteriseerd door verschillende gradaties van craniosynostose, met een klaverbladschedel die werd gerapporteerd in meer dan 50% van de gevallen, cutis gyrata, ribfluweelachtige lineaire strepen op de huid, acanthosis nigricans, huidaanhangsels, en choanale stenose of atresie). Bijkomende kenmerken zijn onder meer gelaatskenmerken gelijkaardig aan ziekte van Crouzon, oordefecten (conductief gehoorverlies, posterieure angulatie van de oren, stenose van de gehoorgangen, pre-auriculaire groeven, en nauwe oorkanalen), hirsutisme, een uitgesproken navelstomp, en urogenitale anomalieën (anterieur aangelegde anus, hypoplastische schaamlippen, hypospadieën). BSS is geassocieerd met een ongunstige uitkomst aangezien patiënten een verhoogd risico vertonen op plots overlijden tijdens hun eerste levensjaar. Bij de meeste patiënten die de zuigelingentijd overleven, worden significante ontwikkelingsachterstand en intellectuele beperking waargenomen."},"pt":{"name":"Síndrome de cutis gyrata-acantose nigricans-craniossinostose","synonyms":["Síndrome Beare-Stevenson"]},"pl":{"name":"Skóra kręta ciemienia - rogowacenie ciemne - kraniosynostoza","synonyms":["Zespół Beare'a i Stevensona i skóra kręta"]},"cs":{"name":"Syndrom zahrnující cutis gyrata, acanthosis nigricans a kraniosynostózu","synonyms":["Beareův-Stevensonův syndrom cutis gyrata","Beare-Stevensonův syndrom cutis gyrata"]},"uk":{"name":"Синдром складчастої пахідермії-чорного акантозу-краніосиностозу","synonyms":["Синдром Біра-Стівенсона (cutis gyrata)"],"definition":"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy."},"zh":{"name":"回状颅皮-黑棘皮-颅缝早闭综合征","synonyms":["Beare-Stevenson回状颅皮综合征"]},"tr":{"name":"Cutis gyrata-akantozis nigrikans-kraniyosinostoz sendromu","synonyms":["Beare-Stevenson kutis girata sendromu"]}},"xrefs":[{"source":"OMIM","code":"123790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"947865461"},{"source":"MONDO","code":"0007412","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565129","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852406","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"332","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301628[PMID]_21438135[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"19610084[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19610084[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007469","label":"Palmoplantar cutis gyrata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004450","label":"Preauricular skin furrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003246","label":"Prominent scrotal raphe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}