{"orpha":3339,"name":"Oculoectodermal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aplasia cutis congenita-epibulbar dermoids syndrome","Toriello Lacassie Droste syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by aplasia cutis congenita and epibulbar dermoids. Affected individuals present mostly with multiple, asymmetrically distributed, hairless, non scarring, atrophic, congenital scalp lesions and unilateral or bilateral epibulbar dermoids with or without other ocular anomalies (including strabismus, nystagmus, microcornea, and microphthalmia). Eyelid coloboma, acrochordons, linear/cutaneous hyperpigmentation, mostly following Blaschko lines, can also be present. Giant cell granulomas of the jaws and nonossifying fibromas of the long bones are commonly observed in individuals starting from 5 years old. Additional and variable clinical features including growth failure, neurodevelopmental delay, epilepsy, learning difficulties, behavioral abnormalities, lymphedema, macrocephaly, cardiovascular defects, facial asymmetry and mild dysmorphism were reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3339/","orphanet_url":"https://www.orpha.net/en/disease/detail/3339","names":{"fr":{"name":"Syndrome oculo-ectodermique","synonyms":["Syndrome d'aplasie cutanée congénitale-dermoïdes épibulbaires","Syndrome de Toriello-Lacassie-Droste"],"definition":"Dysplasie ectodermique caractérisée par une aplasia cutis congenita et des dermoïdes épibulbaires. Les individus atteints présentent principalement de multiples lésions congénitales, asymétriques, glabres, non cicatricielles, atrophiques du cuir chevelu et des dermoïdes épibulbaires unilatéraux ou bilatéraux avec ou sans autres anomalies oculaires (y compris strabisme, nystagmus, microcornée et microphtalmie). Par ailleurs, on peut observer un colobome des paupières, des acrochordons, une hyperpigmentation linéaire/cutanée, suivant le plus souvent les lignes de Blaschko. Des granulomes à cellules géantes des mâchoires et des fibromes non ossifiants des os longs sont fréquemment observés chez les patients à partir de 5 ans. D'autres signes cliniques, inconstants, notamment un retard de croissance, un retard neurodéveloppemental, une épilepsie, des difficultés d'apprentissage, des troubles du comportement, un lymphoedème, une macrocéphalie, des anomalies cardiovasculaires, une asymétrie faciale et une légère dysmorphie ont été rapportés chez certains patients."},"de":{"name":"Okulo-ekto-dermales Syndrom","synonyms":["Syndrom der Aplasia cutis congenita mit epibulbärem Dermoid","Toriello-Lacassie-Droste-Syndrom"],"definition":"Ein seltenes ektodermales Dysplasie-Syndrom, das durch Aplasia cutis congenita und epibulbäre Dermoide gekennzeichnet ist. Die Betroffenen weisen meist multiple, asymmetrisch verteilte, unbehaarte, nicht vernarbende, atrophische, angeborene Kopfhautläsionen und ein- oder beidseitige epibulbäre Dermoide mit oder ohne andere Augenanomalien (einschließlich Strabismus, Nystagmus, Mikrokorne und Mikrophthalmus) auf. Augenlidkolobome, Akrochordone, lineare/kutane Hyperpigmentierung, meist entlang der Blaschko-Linien, können ebenfalls vorhanden sein. Riesenzellgranulome des Kiefers und nichtossifizierende Fibrome der langen Knochen werden häufig bei Personen ab 5 Jahren beobachtet. Bei einigen Patienten wurden zusätzliche und variable klinische Merkmale wie Wachstumsstörungen, neurologische Entwicklungsverzögerungen, Epilepsie, Lernschwierigkeiten, Verhaltensauffälligkeiten, Lymphödeme, Makrozephalie, kardiovaskuläre Defekte, Gesichtsasymmetrie und leichter Dysmorphismus festgestellt."},"es":{"name":"Síndrome oculoectodérmico","synonyms":["Síndrome de Toriello Lacassie Droste","Síndrome de aplasia cutis congénita-dermoides epibulbar"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por aplasia cutis congénita y dermoides epibulbares. Los pacientes presentan principalmente lesiones congénitas atróficas, múltiples, asimétricamente distribuidas, sin pelo y no cicatriciales en el cuero cabelludo, y dermoides epibulbares uni- o bilaterales con o sin otras anomalías oculares (incluyendo estrabismo, nistagmo, microcórnea y microftalmia). También puede asociar coloboma palpebral, acrocordones e hiperpigmentación lineal cutánea, generalmente siguiendo las líneas de Blaschko. En pacientes a partir de los 5 años de edad, es común observar granulomas de células gigantes mandibulares y fibromas no osificantes de los huesos largos. También se han descrito en algunos pacientes otras características clínicas adicionales y variables, incluyendo fallo de medro, retraso del neurodesarrollo, epilepsia, dificultades de aprendizaje, trastornos de conducta, linfedema, macrocefalia, defectos cardiovasculares y leve dismorfia y asimetría facial."},"it":{"name":"Sindrome oculo-ectodermica","synonyms":["Aplasia cutanea congenita - dermoidi epibulbari","Sindrome aplasia cutanea congenita-dermoidi epibulbari"],"definition":"La sindrome oculo-ectodermica (OES) è caratterizzata dall'associazione di dermoidi epibulbari e aplasia cutanea congenita."},"nl":{"name":"Oculo-ectodermaal syndroom","synonyms":["Aplasia cutis congenita - epibulbaire dermoïden-syndroom","Syndroom van Toriello Lacassie Droste"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door aplasia cutis congenita en epibulbaire dermoïden. Getroffen individuen presenteren zich voornamelijk met multipele, asymmetrisch verdeelde, haarloze, niet-littekenvormende, atrofische, congenitale laesies van de scalp en unilaterale of bilaterale epibulbaire dermoïden met of zonder andere ooganomalieën (waaronder strabisme, nystagmus, microcornea en microftalmie). Coloboom van ooglid, acrochordons, en lineaire/cutane hyperpigmentatie, meestal langs de lijnen van Blaschko, kunnen ook aanwezig zijn. Reuscelgranulomen van kaak en niet-ossificerende fibromen van pijpbeenderen worden vaak waargenomen bij individuen vanaf de leeftijd van vijf jaar. Bijkomende en variabele klinische kenmerken die werden gerapporteerd bij sommige patiënten zijn onder meer groeifalen, neurologische ontwikkelingsachterstand, epilepsie, leermoeilijkheden, gedragsafwijkingen, lymfoedeem, macrocefalie, cardiovasculaire defecten, asymmetrie van het aangezicht en milde dysmorfie."},"pt":{"name":"Síndrome óculoectodérmico","synonyms":["Síndrome Toriello Lacassie Droste","Síndrome de aplasia cutis congénita-dermoides epibulbar"]},"pl":{"name":"Zespół Toriello, Lacassie i Droste","synonyms":["Wrodzona aplazja skóry - guzek nagałkowy","Zespół oczno-ektodermalny"],"definition":"Rzadka dysplazja ektodermalna, charakteryzująca się wrodzoną aplazją skóry oraz obecnością skórzaków nadtwardówkowych. U chorych występują liczne, asymetrycznie rozmieszczone, pozbawione włosów, niebliznowaciejące, wrodzone atroficzne zmiany na skórze głowy oraz jednostronne lub obustronne skórzaki nadtwardówkowe, z lub bez innych wad oka (takich jak zez, oczopląs, mała rogówka lub małoocze). Mogą występować wady powiek (coloboma – szczelina oka), włókniaki miękkie, liniowe/skórne przebarwienia, ułożone zgodnie z liniami Blaschko. U dzieci od około 5 roku życia często obserwuje się ziarniniaki olbrzymiokomórkowe szczęk oraz włókniste niekostniejące guzy kości długich. Dodatkowe cechy kliniczne to zahamowanie wzrostu, opóźnienie neurorozwojowe, padaczka, trudności w nauce, zaburzenia zachowania, obrzęki limfatyczne, wielkogłowie, wady układu sercowo-naczyniowego, asymetrię twarzy oraz łagodne cechy dysmorfii."},"cs":{"name":"Toriellové-Lacassieův-Drosteův syndrom","synonyms":["Syndrom zahrnující aplasia cutis congenita a epibulbární dermoidy","Okuloektodermální syndrom","Toriello-Lacassie-Drosteův syndrom"]},"uk":{"name":"Окулоектодермальний синдром","synonyms":["Синдром вродженої аплазія шкіри - епібульбарних дермоїдів"],"definition":"A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital."},"zh":{"name":"Toriello-Lacassie-Droste 综合征","synonyms":["先天性表皮发育不良-眼球外层皮样囊肿综合征"]},"tr":{"name":"Toriello-Lacassie-Droste sendromu","synonyms":["Oküloektodermal sendrom","Aplazi kutis konjenita-epibulbar dermoid sendromu"]}},"xrefs":[{"source":"OMIM","code":"600268","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1983176633"},{"source":"MONDO","code":"0010854","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838329","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10366","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25808193[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"25251940[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25251940[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-27","source":null,"terms":[{"hpo":"HP:0000502","label":"Abnormal conjunctiva morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008749","label":"Laryngeal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null}]}}