{"orpha":2671,"name":"Neu-Laxova syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, severe microcephaly, intrauterine growth restriction (IUGR), joint contractures, edema, cataracts and morphological central nervous system (CNS) abnormalities which results from distinct enzymatic deficiencies in the serine biosynthesis pathway. It is usually lethal at birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2671/","orphanet_url":"https://www.orpha.net/en/disease/detail/2671","names":{"fr":{"name":"Syndrome de Neu-Laxova","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare se manifestant par une ichtyose, une microcéphalie sévère, un retard de croissance intra-utérin (RCIU), des contractures articulaires, un oedème, une cataracte et des anomalies morphologiques du système nerveux central (SNC), résultant de déficits enzymatiques distincts dans la voie de biosynthèse de la sérine. Le syndrome cause généralement le décès à la naissance."},"de":{"name":"Neu-Laxova-Syndrom","definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Ichthyose, schwere Mikrozephalie, intrauterine Wachstumsrestriktion (IUGR), Gelenkkontrakturen, Ödeme, Katarakte und morphologische Anomalien des Zentralnervensystems (ZNS) gekennzeichnet ist und auf ausgeprägten Enzymdefiziten im Serin-Biosyntheseweg beruht. Es verläuft in der Regel bei der Geburt tödlich."},"es":{"name":"Síndrome de Neu-Laxova","definition":"El síndrome de Neu-Laxova (SNL) es un síndrome de malformaciones múltiples poco frecuente. Se caracteriza por un grave retraso del crecimiento intrauterino, microcefalia grave con frente inclinada, ictiosis grave (bebé tipo colodión) y dismorfismo facial."},"it":{"name":"Sindrome di Neu-Laxova","synonyms":["Deficit di 3-fosfoglicerato deidrogenasi, forma neonatale"]},"nl":{"name":"Syndroom van Neu-Laxova","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door ichthyosis, ernstige microcefalie, intra-uteriene groeirestrictie (IUGR), gewrichtscontracturen, oedeem, cataract en morfologische afwijkingen van centraal zenuwstelsel (CZS) als gevolg van verschillende enzymdeficiënties in de biosynthese van serine. Het is meestal letaal bij de geboorte."},"pt":{"name":"Síndrome Neu-Laxova"},"pl":{"name":"Zespół Neu i Laxova","synonyms":["Niedobór dehydrogenazy 3-fosfoglicerynianu, postać noworodkowa"]},"cs":{"name":"Neuův-Laxové syndrom","synonyms":["Deficit 3-fosfoglycerát dehydrogenázy, novorozenecká forma","Neu-Laxové syndrom"]},"uk":{"name":"Синдром Ноя-Лаксова","definition":"Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism."},"zh":{"name":"Neu-Laxova综合征"},"tr":{"name":"Neu-Laxova sendromu"}},"xrefs":[{"source":"OMIM","code":"256520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616038","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"893358230"},{"source":"MONDO","code":"0000179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265218","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"102","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":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]},{"orpha":102011,"name":"Lissencephaly type 3","classifications":[147,156,181]},{"orpha":98563,"name":"Microblepharon-ablephara syndrome","classifications":[147,156,189]},{"orpha":35705,"name":"Neurometabolic disorder due to serine deficiency","classifications":[150,156,181]}],"children":[{"orpha":583607,"name":"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency","type":"Etiological subtype"},{"orpha":583612,"name":"Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency","type":"Etiological subtype"},{"orpha":583602,"name":"Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PHGDH","name":"phosphoglycerate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24836451[PMID]","hgnc":"8923","ensembl":"ENSG00000092621","omim":"606879","loci":["1p12"],"via":{"orpha":583607,"name":"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"}},{"symbol":"PSAT1","name":"phosphoserine aminotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25152457[PMID]","hgnc":"19129","ensembl":"ENSG00000135069","omim":"610936","loci":["9q21.2"],"via":{"orpha":583602,"name":"Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency"}},{"symbol":"PSPH","name":"phosphoserine phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25152457[PMID]","hgnc":"9577","ensembl":"ENSG00000146733","omim":"172480","loci":["7p11.2"],"via":{"orpha":583612,"name":"Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":91.0,"area":"Worldwide","status":"Validated","source":"25152457[PMID]_24371398[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25152457[PMID]_24371398[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-20","source":null,"terms":[{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001460","label":"Aplasia/Hypoplasia involving the skeletal musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}