{"orpha":247667,"name":"Childhood-onset hypophosphatasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Childhood-onset Rathbun disease","Childhood-onset phosphoethanolaminuria"],"definition":"A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247667/","orphanet_url":"https://www.orpha.net/en/disease/detail/247667","names":{"fr":{"name":"Hypophosphatasie de l'enfant","synonyms":["Maladie de Rathbun de l'enfant","Phosphoéthanolaminurie de l'enfant"],"definition":"Forme rare et modérée d'hypophosphatasie (HPP) caractérisée par des signes cliniques très variables apparaissant après l'âge de six mois et allant d'une faible densité minérale osseuse par rapport aux normes de l'âge, à des fractures inexpliquées, des déformations squelettiques, un rachitisme, une petite taille et une démarche dite « dandinante »."},"de":{"name":"Hypophosphatasie mit Beginn im Kindesalter","synonyms":["Phosphoethanolaminurie mit Beginn im Kindesalter","Rathburn-Krankheit mit Beginn im Kindesalter"],"definition":"Eine seltene, mittelschwere Form der Hypophosphatasie (HPP) mit Beginn nach dem sechsten Lebensmonat und sehr unterschiedlichen klinischen Merkmalen, die von einer für das Alter niedrigen Knochenmineraldichte bis hin zu ungeklärten Frakturen, Skelettdeformationen und Rachitis mit Kleinwuchs und Watschelgang reichen."},"es":{"name":"Hipofosfatasia de inicio en la infancia","synonyms":["Enfermedad de Rathburn de inicio en la infancia","Fosfoetanolaminuria de inicio en la infancia"],"definition":"Es una forma moderada de hipofosfatasia poco frecuente caracterizada por un inicio posterior a los seis meses de edad y hallazgos clínicos ampliamente variables desde una baja densidad mineral ósea para la edad hasta fracturas espontáneas, deformidades esqueléticas y raquitismo acompañado de talla baja y marcha anserina."},"it":{"name":"Ipofosfatasia a esordio infantile","synonyms":["Fosfoetanolaminuria a esordio infantile","Malattia di Rathburn a esordio infantile"],"definition":"Si tratta di una forma rara e moderata di ipofosfatasia (HPP), che esordisce dopo i sei mesi di vita con un quadro clinico molto variabile, che comprende la riduzione della densità minerale ossea in rapporto all'età, le fratture apparentemente inspiegabili, le deformità scheletriche, il rachitismo, la bassa statura e l'andatura a base allargata."},"nl":{"name":"Hypofosfatasie met aanvang in de kindertijd","synonyms":["Fosfo-ethanolaminurie met aanvang in de kindertijd","Ziekte van Rathburn met aanvang in de kindertijd"],"definition":"Een zeldzame, matige vorm van hypofosfatasie (HPP), gekarakteriseerd door aanvang na de leeftijd van zes maanden en zeer variabele klinische kenmerken, gaande van voor de leeftijd lage botmineraaldichtheid tot onverklaarde fracturen, skeletmisvormingen, en rachitis met kleine gestalte en waggelende gang."},"pt":{"name":"Hipofosfatasia com início na infância","definition":"Forma rara e moderada de hipofosfatasia (HPP) caracterizada por um início após os seis meses de idade e por características clínicas muito variáveis, desde uma baixa densidade mineral óssea para a idade a fraturas inexplicáveis, deformidades esqueléticas e raquitismo com baixa estatura e ''marcha de pato''."},"pl":{"name":"Hipofosfatazja o początku w wieku dziecięcym","synonyms":["Choroba Rathburna o początku w wieku dziecięcym","Fosfoetanoloaminuria o początku w wieku dziecięcym"]},"cs":{"name":"Hypofosfatázie s nástupem v dětství","synonyms":["Rathburnova choroba s nástupem v dětství","Fosfoetanolaminurie s nástupem v dětství"]},"uk":{"name":"Гіпофосфатазія в дитячому віці","synonyms":["Фосфоетаноламінурія в дитячому віці","Хвороба Ратбуна, що починається в дитинстві"],"definition":"A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait."},"zh":{"name":"儿童起病低磷酸酯酶症","synonyms":["儿童起病低磷酸酯酶症"],"definition":"一种罕见的中度低磷酸酯酶症（HPP），其特征是在六月龄后发病，表现多变，从骨密度低到无法解释的骨折、骨骼畸形与身材矮小、步态蹒跚的佝偻病都可发生。"},"tr":{"name":"Çocukluk çağı başlangıçlı hipofosfatazi","synonyms":["Çocukluk çağı-başlangıçlı Rathbun hastalığı","Çocukluk çağı-başlangıçlı fosfoetanolaminüri"]}},"xrefs":[{"source":"OMIM","code":"241510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MeSH","code":"C562440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8735","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":436,"name":"Hypophosphatasia","classifications":[147,156,199]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ALPL","name":"alkaline phosphatase, biomineralization associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10737975[PMID]_17916236[PMID]_20301329[PMID]","hgnc":"438","ensembl":"ENSG00000162551","omim":"171760","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}