{"orpha":2396,"name":"Encephalocraniocutaneous lipomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Haberland syndrome"],"definition":"A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2396/","orphanet_url":"https://www.orpha.net/en/disease/detail/2396","names":{"fr":{"name":"Lipomatose encéphalo-cranio-cutanée","synonyms":["Syndrome de Haberland"],"definition":"Maladie rare de la peau d'origine génétique caractérisée par des anomalies oculaires, cutanées et du système nerveux central. Les caractéristiques cliniques typiques comprennent un hamartome adipeux glabre bien délimité sur le cuir chevelu, des tumeurs oculaires bénignes et des lipomes du système nerveux central, entraînant parfois des crises convulsives, une spasticité et une déficience intellectuelle. Un nævus psiloliparus, une hypoplasie ou une aplasie dermique focale, des lipomes des paupières, des colobomes, des malformations vasculaires intracrâniennes, une atrophie hémisphérique, un kyste porencéphalique et une hydrocéphalie sont des associations possibles."},"de":{"name":"Lipomatose, enzephalo-kranio-kutane","synonyms":["Haberland-Syndrom"],"definition":"Eine seltene, genetisch bedingte Hautkrankheit, die durch Anomalien der Augen, der Haut und des zentralen Nervensystems gekennzeichnet ist. Zu den typischen klinischen Merkmalen gehören ein gut abgegrenzter haarloser fettiger Naevus auf der Kopfhaut, gutartige Augentumore und Lipome des zentralen Nervensystems, die manchmal zu Krampfanfällen, Spastizität und intellektueller Beeinträchtigung führen. Auch ein Naevus psiloliparus, fokale dermale Hypo- oder Aplasie, Hautanhängsel an den Augenlidern, Kolobome, anormale intrakranielle Gefäße, hemisphärische Atrophie, porenzephale Zyste und Hydrozephalus wurden in Verbindung gebracht."},"es":{"name":"Lipomatosis encefalocraneocutánea","synonyms":["Síndrome de Haberland"],"definition":"Es una enfermedad cutánea genética poco frecuente caracterizada por anomalías del sistema nervioso central, cutáneo y ocular. Los hallazgos clínicos típicos incluyen un nevo graso sin pelo y bien delimitado localizado en el cuero cabelludo, tumores oculares benignos y lipomas del sistema nervioso central que a menudo conducen a convulsiones, espasticidad y discapacidad intelectual. También se ha descrito asociación con el nevo psilolíparo, hipo- o aplasia dérmica focal, marcas cutáneas palpebrales, coloboma, vasos intracraneales anómalos, hemiatrofia, quiste porencefálico e hidrocefalia."},"it":{"name":"Lipomatosi encefalo-cranio-cutanea","synonyms":["Sindrome di Haberland"],"definition":"È una malattia cutanea genetica rara, caratterizzata da anomalie oculari, cutanee e del sistema nervoso centrale. Il quadro clinico caratteristico comprende un nevo composto da tessuto grasso ben demarcato, privo di peli, localizzato sul cuoio capelluto, tumori oculari benigni e lipomi del sistema nervoso contrale, che a volte causano crisi epilettiche, spasticità e disabilità intellettiva. Può associarsi anche a nevo psiloliparo, ipoplasia o aplasia focale del derma, appendici cutanee palpebrali, colobomi, anomalie dei vasi intracranici, atrofia degli emisferi, cisti poroencefalica e idrocefalo."},"nl":{"name":"Encefalocraniocutane lipomatose","synonyms":["Syndroom van Haberland"],"definition":"Een zeldzame, genetische huidziekte gekarakteriseerd door anomalieën van de ogen, de huid en het centrale zenuwstelsel. Typische klinische kenmerken zijn onder meer een goed begrensde, haarloze vettige naevus op de hoofdhuid, goedaardige oculaire tumoren, en lipomen van het centrale zenuwstelsel die soms leiden tot insulten, spasticiteit en intellectuele achterstand. Naevus psiloliparus, focale dermale hypo- of aplasie, steelwratjes aan de oogleden, colobomen, abnormale intracraniale bloedvaten, atrofie van de hemisferen, porencefale cyste, en hydrocefalie werden ook reeds geassocieerd."},"pt":{"name":"Lipomatose encéfalo-cranio-cutânea"},"pl":{"name":"Tłuszczakowatość mózgowo-czaszkowo-skórna","synonyms":["Zespół Haberlanda"]},"cs":{"name":"Encefalo-kranio-kutánní lipomatóza","synonyms":["Haberlandův syndrom"]},"uk":{"name":"Енцефалокраніокутанний ліпоматоз","synonyms":["Синдром Хаберленда"],"definition":"A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated."},"zh":{"name":"脑颅皮肤脂肪瘤病","synonyms":["Haberland综合征"]},"tr":{"name":"Ensefalokraniokütanöz lipomatoz","synonyms":["Haberland sendromu"]}},"xrefs":[{"source":"OMIM","code":"613001","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF02.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1084215843"},{"source":"MONDO","code":"0013074","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406612","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2108","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"26970110[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26942290[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":77.0,"area":"Worldwide","status":"Validated","source":"24881613[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":"2017-06-20","source":"26942290[PMID]_24881613[PMID]","terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002763","label":"Abnormal cartilage morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null}]}}