{"orpha":2407,"name":"Laryngo-onycho-cutaneous syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LOC syndrome","LOGIC syndrome","Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome","Shabbir syndrome"],"definition":"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2407/","orphanet_url":"https://www.orpha.net/en/disease/detail/2407","names":{"fr":{"name":"Syndrome laryngo-onycho-cutané","synonyms":["Granulations laryngées et oculaires chez les enfants indiens","Syndrome LOC","Syndrome LOGIC","Syndrome de Shabbir"],"definition":"Le syndrome LOC est un sous-type d'épidermolyse bulleuse jonctionnelle (EBJ) caractérisé par des pleurs altérés pendant la période néonatale et une production anormale de tissu de granulation, affectant en particulier les voies respiratoires hautes, la conjonctive et les régions péri-unguéale/sous-unguéales."},"de":{"name":"Laryngo-onycho-kutanes Syndrom","synonyms":["LOC-Syndrom","LOGIC-Syndrom","Shabbir-Syndrom","Syndrom des laryngealen und okulären Granulationsgewebes bei Kindern des Indischen Subkontinents"],"definition":"Das LOC-Syndrom ist ein Subtyp der Junktionalen Epidermolysis bullosa (JEB; siehe dort) und gekennzeichnet durch auffälliges Schreien in der Neugeborenenperiode und durch abnorme Produktion von Granulationsgewebe, besonders in den oberen Luftwegen, auf den Konjunktiven und im peri- und subungualen Bereich."},"es":{"name":"Síndrome laringo-ónico-cutáneo","synonyms":["Síndrome LOC","Síndrome LOGIC","Síndrome de Shabbir","Síndrome de tejido de granulación laríngeo y ocular en niños del subcontinente indio"],"definition":"El síndrome LOC es un subtipo de epidermólisis ampollosa juntural (JEB, consulte este término) caracterizado por un grito peculiar en el periodo neonatal y por la producción anómala de tejidos de granulación, que afectan particularmente al tracto de las vías respiratorias superiores, la conjuntiva y las zonas periungueales/subungueales."},"it":{"name":"Sindrome LOC","synonyms":["Sindrome LOGIC","Sindrome del tessuto di granulazione oculare e laringeo nei bambini del subcontinente indiano","Sindrome di Shabbir"],"definition":"La sindrome LOC è un sottotipo di epidermolisi bollosa giunzionale (JEB; si veda questo termine), caratterizzata da un pianto alterato nel periodo neonatale e dalla produzione aberrante di tessuto di granulazione, che interessa, in particolare, le vie aeree superiori, la congiuntiva e le regioni periungueali/sottoungueali."},"nl":{"name":"Laryngo-onycho-cutaan syndroom","synonyms":["LOC-syndroom","LOGIC-syndroom","Syndroom van Shabbir","Syndroom van laryngeaal en oculair granulatieweefsel bij kinderen van het Indiase subcontinent"],"definition":"Een subtype van junctionele epidermolysis bullosa (JEB), gekenmerkt door een verandering van gehuil in de neonatale periode en door aberrante productie van granulatieweefsel in vooral bovenste luchtwegen, conjunctiva, en periunguale/subunguale delen."},"pt":{"name":"Síndrome laringo-onico-cutâneo","synonyms":["Síndrome LOC","Síndrome LOGIC","Síndrome de tecido de granulação oculo-laringeo em crianças do subcontinente Indiano"]},"pl":{"name":"Zespół krtaniowo-paznokciowo-skórny","synonyms":["Zespół LOGIC","Zespół Shabbira","Zespół LOC"]},"cs":{"name":"LOC syndrom","synonyms":["LOGIC syndrom","Laryngoonychokutánní syndrom","Syndrom laryngeální a okulární granulační tkáně u dětí z Indického subkotinentu","Shabbirův syndrom"]},"uk":{"name":"Ларингооніхокутанний синдром","synonyms":["Грануляційна тканина гортані та очей у дітей із синдромом Індійського субконтиненту","LOC синдром","LOGIC синдром","Синдром Шаббіра"],"definition":"LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites."},"zh":{"name":"LOC综合征","synonyms":["印度次大陆儿童喉和眼部肉芽组织综合征"]},"tr":{"name":"LOC sendromu","synonyms":["LOGIC sendromu","Shabbir sendromu","Laringo-oniko-kutanöz sendrom","Hint Yarımadası çocuklarında laringeal ve oküler granülasyon dokusu"]}},"xrefs":[{"source":"OMIM","code":"245660","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1555441738"},{"source":"MONDO","code":"0009513","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1328355","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062987","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":305,"name":"Junctional epidermolysis bullosa","classifications":[147,156,187]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[156]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":98610,"name":"Rare disorder with conjunctival involvement as a major feature","classifications":[189]},{"orpha":522542,"name":"Rare genetic disorder with conjunctival involvement as a major feature","classifications":[156]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":108995,"name":"Syndromic respiratory or mediastinal malformation","classifications":[147,186]}],"children":[],"genes":[{"symbol":"LAMA3","name":"laminin subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12915477[PMID]_23869449[PMID]","hgnc":"6483","ensembl":"ENSG00000053747","omim":"600805","loci":["18q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2025-02-04","source":"38328664[PMID]_34514630[PMID]","terms":[{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100803","label":"Abnormality of the periungual region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000956","label":"Exuberant granulation tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005348","label":"Inspiratory stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430007","label":"Symblepharon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008777","label":"Abnormal vocal cord morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}