{"orpha":2271,"name":"Congenital ichthyosis-microcephalus-tetraplegia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Congenital ichthyosis-microcephalus-quadriplegia syndrome"],"definition":"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2271/","orphanet_url":"https://www.orpha.net/en/disease/detail/2271","names":{"fr":{"name":"Syndrome d'ichtyose congénitale-microcéphalie-tétraplégie","synonyms":["Syndrome d'ichtyose congénitale-microcéphalie-quadriplégie"],"definition":"Syndrome d'ichtyose autosomique rare avec d'importants signes neurologiques, caractérisé par l'association d'une ichtyose congénitale avec un retard de développement sévère, une microcéphalie, une tétraplégie spastique, une déficience auditive neurosensorielle, une athétose et une myoclonie. Des décharges épileptiques marquées avec apparition de spasmes toniques ont également été rapportées. L'IRM cérébrale met en évidence une atrophie corticale diffuse. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Kongenitale Ichthyose-Mikrozephalie-Tetraplegie-Syndrom","definition":"Eine seltene autosomale syndromale Ichthyose mit auffälligen neurologischen Symptomen, die durch eine Kombination von kongenitaler Ichthyose mit schwerer Entwicklungsverzögerung, Mikrozephalie, spastischer Tetraplegie, Schallempfindungsschwerhörigkeit, Athetose und Myoklonus gekennzeichnet ist. Auch ausgeprägte epileptische Anfälle mit tonischen Krämpfen wurden berichtet. Die zerebrale MRT zeigt eine diffuse kortikale Atrophie. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ictiosis congénita-microcefalia-tetraplejía","synonyms":["Ictiosis congénita-microcefalia-cuadriplejía"],"definition":"Es un síndrome poco frecuente de ictiosis autosómico con destacados signos neurológicos caracterizado por la asociación de ictiosis congénita con retraso grave del desarrollo, microcefalia, tetraplejía espástica, hipoacusia neurosensorial, atetosis y mioclonías. También se ha descrito descargas epilépticas marcadas con aparición de espasmos tónicos. La neuroimagen muestra atrofia cortical difusa. No ha habido más descripciones en la literatura desde 1995."},"it":{"name":"Sindrome ittiosi congenita-microcefalia-tetraplegia","synonyms":["Ittiosi congenita - microcefalo - quadriplegia"],"definition":"Si tratta di un'ittiosi autosomica rara con sintomi neurologici, caratterizzata da ittiosi congenita associata a grave ritardo dello sviluppo, microcefalia, tetraplegia spastica, sordità neurosensoriale, atetosi e mioclono. I pazienti possono presentare anche scariche epilettiche marcate con spasmi tonici. La RMN cerebrale evidenzia atrofia corticale diffusa. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Congenitale ichthyosis - microcefalus - tetraplegie-syndroom","synonyms":["Congenitale ichthyosis - microcefalus - quadriplegie-syndroom"],"definition":"Een zeldzaam autosomaal ichthyosis-syndroom met prominente neurologische verschijnselen, gekenmerkt door de associatie van congenitale ichthyosis met ernstige ontwikkelingsachterstand, microcefalie, spastische tetraplegie, sensorineuraal gehoorverlies, athetose, en myoclonus. Opmerkelijke epileptische ontladingen met optreden van tonische spasmen werden ook reeds gerapporteerd. Cerebrale MRI toont diffuse corticale atrofie. Sinds 1995 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ictiose congénita-microcefalia-tetraplegia","definition":"Síndrome autossómica rara de ictiose com sinais neurológicos proeminentes, caracterizada pela associação de ictiose congénita com perturbação grave do desenvolvimento, microcefalia, tetraplegia espástica, deficiência auditiva neurossensorial, atetose e mioclonia. Foram descritas descargas epilépticas graves com ocorrência de espasmos tónicos. A RM cerebral mostra atrofia cortical difusa. Não houve mais casos descritos na literatura desde 1995."},"pl":{"name":"Rybia łuska wrodzona - małogłowie - tetraplegia","synonyms":["Rybia łuska wrodzona - małogłowie - kwadriplegia"]},"cs":{"name":"Syndrom zahrnující vrozenou ichtyózu, mikrocefalii a tetraplegii","synonyms":["Syndrom zahrnující vrozenou ichtyózu, mikrocefalii a kvadruplegii"]},"uk":{"name":"Синдром вродженого іхтіозу-мікроцефалії-тетраплегії","synonyms":["Синдром вродженого іхтіозу-мікроцефалії-квадриплегії"],"definition":"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995."},"zh":{"name":"先天性鱼鳞病-小头畸形-四肢麻痹综合征","synonyms":["先天性鱼鳞病-小头畸形-四肢麻痹综合征"]},"tr":{"name":"Doğumsal iktiyoz-mikrosefali-tetrapleji sendromu","synonyms":["Doğumsal iktiyoz-mikrosefali-kuadripleji sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679626","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7619196[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7619196[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-20","source":null,"terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Very frequent (99-80%)","criteria":null}]}}