{"orpha":1532,"name":"Gómez-López-Hernández syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebellotrigeminal-dermal dysplasia syndrome","Craniosynostosis-alopecia-brain defect syndrome"],"definition":"A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1532/","orphanet_url":"https://www.orpha.net/en/disease/detail/1532","names":{"fr":{"name":"Syndrome de Gómez-López-Hernández","synonyms":["Syndrome de craniosynostose-alopécie-ventricule cérébral anormal"],"definition":"Syndrome neuro-cutané qui associe des anomalies du cervelet (rhombencephalosynapsis), des nerfs craniaux (anesthésie du trijumeau), et du cuir chevelu (alopécie). Une craniosynostose, une hypoplasie du massif facial médian, des opacités cornéennes bilatérales, des oreilles bas implantées, une petite taille, une déficience intellectuelle modérée et une ataxie peuvent également être présents. Hyperactivité, dépression, comportement d'autoaggression et troubles bipolaires ont aussi été rapportés."},"de":{"name":"Gómez-López-Hernández-Syndrom","synonyms":["Zerebellotrigeminale dermale Dysplasie","Kraniosynostose - Alopezie - Hirndefekt"],"definition":"Ein seltenes neurokutanes Syndrom, das durch die Kombination von Anomalien des Kleinhirns (Rhombenzephalosynapsis), der Hirnnerven (Trigeminusanästhesie) und der Kopfhaut (Alopezie) gekennzeichnet ist. Weitere bei Patienten beobachtete Merkmale waren Kraniosynostose, Mittelgesichtshypoplasie, beidseitige Hornhauttrübung, tiefsitzende Ohren, Kleinwuchs, moderate Intelligenzminderung und Ataxie. Auch über Hyperaktivität, Depressionen, selbstverletzendes Verhalten und bipolare Störungen wurde berichtet."},"es":{"name":"Síndrome de Gómez-López-Hernández","synonyms":["Craneosinostosis-alopecia-defecto cerebral","Displasia cerebelo-trigemino-dérmica"],"definition":"El síndrome de López-Hernández, que puede clasificarse dentro de los síndromes neurocutáneos, asocia anomalías del cerebelo (rombencefalosinapsis), con pares craneales (anestesia trigeminal), y con alopecia. Hasta la fecha se han descrito 11 casos. En algunos pacientes se observó también craneosinostosis, hipoplasia medio facial, opacidades bilaterales de la córnea, orejas de implantación baja, talla baja, trastornos intelectuales leves y ataxia. También se han descrito casos con hiperactividad, depresión, conducta autolesiva y trastorno bipolar."},"it":{"name":"Sindrome di Gómez-López-Hernández","synonyms":["Craniosinostosi - alopecia - anomalia cerebrale","Displasia cerebello-trigemino-dermica"]},"nl":{"name":"Syndroom van Gómez-López-Hernández","synonyms":["Cerebellotrigeminale-dermale dysplasie-syndroom","Craniosynostose - alopecie - hersendefect-syndroom"],"definition":"Een neurocutaan syndroom, gekenmerkt door associatie van afwijkingen van cerebellum (rhombencefalosynapsis), hersenzenuwen (gevoelloosheid van nervus trigeminus), en scalp (alopecie). Tot op heden werd syndroom van Lopez-Hernandez bij 11 individuen gerapporteerd. Overige kenmerken die werden geobserveerd bij patiënten zijn craniosynostose, hypoplasie van middengezicht, bilaterale hoornvliestroebeling, laagstaande oren, kleine gestalte, matige intellectuele achterstand, en ataxie. Hyperactiviteit, depressie, zelfverwonding en bipolaire stoornis werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome Gómez-López-Hernández","synonyms":["Craniossinostose-alopecia-anomalia cerebral","Síndrome Lopez-Hernandez"]},"pl":{"name":"Zespół Gómeza, López i Hernándeza","synonyms":["Dysplazja móżdżkowo-trójdzielno-skórna","Kraniosynostoza - łysienie - defekt mózgu"]},"cs":{"name":"Gómezův-López-Hernándezův syndrom","synonyms":["Syndrom cerebelotrigeminální-dermální dysplázie","Syndrom zahrnující kraniosynostózu, alopecii a defekt mozku","Gómez-López-Hernándezův syndrom"]},"uk":{"name":"Синдром Гомеса-Лопеса-Ернандеса","synonyms":["Синдром церебелотригемінально-дермальної дисплазії","Синдром краніосиностозу-алопеції-дефекту головного мозку"],"definition":"A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported."},"zh":{"name":"Gómez-López-Hernández综合征","synonyms":["颅缝早闭-脱发-脑缺损综合征"]},"tr":{"name":"Gómez-López-Hernández syndrome","synonyms":["Serebellotrigeminal-dermal displazi sendromu","Kraniyosinostoz-alopesi-beyin defekti sendromu"]}},"xrefs":[{"source":"OMIM","code":"601853","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011157","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537285","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795959","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":729538,"name":"Syndromic rhombencephalosynapsis","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"28357184[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28357184[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}