{"orpha":66631,"name":"CEDNIK syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"],"definition":"A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66631/","orphanet_url":"https://www.orpha.net/en/disease/detail/66631","names":{"fr":{"name":"Syndrome CEDNIK","synonyms":["Syndrome de dysgénésie cérébrale-neuropathie-ichtyose-kératodermie palmoplantaire"],"definition":"Le syndrome CEDNIK est un syndrome neurocutané qui se caractérise par des anomalies sévères du développement du système nerveux central et par une différenciation anormale de l'épiderme."},"de":{"name":"CEDNIK-Syndrom","synonyms":["Zerebrale Dysgenesie-Neuropathie-Ichthyose-Palmoplantarkeratose-Syndrom"],"definition":"Eine genetisch bedingte neurokutane Erkrankung, die durch schwere Entwicklungsstörungen des Nervensystems und eine abnorme Differenzierung der Epidermis gekennzeichnet ist. Die Patienten weisen eine einzigartige Konstellation klinischer Anzeichen auf, die mit dem Akronym CEDNIK beschrieben werden: <b><u>Ze</u></b>rebrale <b><u>D</u></b>ysgenesie, <b><u>N</u></b>europathie, <b><u>I</u></b>chthyose und palmo-plantares <b><u>K</u></b>eratoderm."},"es":{"name":"Síndrome CEDNIK","synonyms":["Síndrome de disgenesia cerebral-neuropatía-ictiosis-queratodermia palmoplantar"],"definition":"Es una enfermedad neurocutánea, de origen genético y poco frecuente, caracterizada por graves anomalías del desarrollo del sistema nervioso y una diferenciación aberrante de la epidermis. Los pacientes presentan una constelación única de signos clínicos descritos con el acrónimo CEDNIK: Disgenesia CErebral, Neuropatía, Ictiosis y Queratodermia palmoplantar."},"it":{"name":"Sindrome CEDNIK","synonyms":["Sindrome disgenesia cerebrale-neuropatia-ittiosi-cheratoderma palmoplantare"]},"nl":{"name":"CEDNIK-syndroom","synonyms":["Cerebrale dysgenesie - neuropathie - ichthyosis - keratodermie van handpalm of voetzool-syndroom","Cerebrale dysgenesie - neuropathie - ichthyosis - palmoplantaire keratodermie-syndroom"],"definition":"Een zeldzame, genetische neurocutane aandoening, gekarakteriseerd door ernstige ontwikkelingsdefecten van zenuwstelsel en aberrante differentiatie van epidermis. Patiënten vertonen een unieke constellatie van klinische verschijnselen die worden beschreven met het acroniem CEDNIK, voor CErebrale Dysgenesie, Neuropathie, Ichthyosis, en palmoplantaire Keratodermie."},"pt":{"name":"Síndrome CEDNIK","synonyms":["Síndrome de disgenesia cerebral-neuropatia-ictiose-queratodermia palmo-plantar"]},"pl":{"name":"Zespół CEDNIK","synonyms":["Zespół dysgenezja mózgu-neuropatia-rybia łuska rogowiec dłoni i stóp"]},"cs":{"name":"CEDNIK syndrom","synonyms":["Syndrom zahrnující cerebrální dysgenezi, neuropatii, ichtiózu a palmoplantární keratoderma"]},"uk":{"name":"Синдром CEDNIK","synonyms":["Синдром церебрального дисгенезу - невропатії - іхтіозу - долонно-підошовної кератодермії"],"definition":"A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma."},"zh":{"name":"CEDNIK综合征","synonyms":["大脑发育不全-神经病-鱼鳞病-掌跖角化综合征"]},"tr":{"name":"CEDNIK sendromu","synonyms":["Serebral disgenezi-nöropati-iktiyoz-palmoplantar keratoderma sendromu"]}},"xrefs":[{"source":"OMIM","code":"609528","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"170763135"},{"source":"MONDO","code":"0012290","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836033","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281241,"name":"Autosomal ichthyosis syndrome with fatal disease course","classifications":[156,187]},{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SNAP29","name":"synaptosome associated protein 29","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15968592[PMID]_21073448[PMID]","hgnc":"11133","ensembl":"ENSG00000099940","omim":"604202","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"25958742[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":"2016-06-01","source":"15968592[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null}]}}