{"orpha":2701,"name":"Noonan syndrome-like disorder with loose anagen hair","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mazzanti syndrome","NS/LAH"],"definition":"A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2701/","orphanet_url":"https://www.orpha.net/en/disease/detail/2701","names":{"fr":{"name":"Syndrome Noonan-like avec cheveux anagènes caducs","synonyms":["NS/LAH","Syndrome de Mazzanti"],"definition":"Syndrome apparenté au syndrome de Noonan, caractérisé par une dysmorphie faciale évoquant celle observée dans le syndrome de Noonan, des cheveux anagènes caducs, de fréquentes malformations cardiaques congénitales, des anomalies cutanées caractéristiques (pigmentation foncée de la peau, kératose pilaire, eczéma ou ichtyose) et une petite taille souvent associée à un déficit en hormone de croissance. Un retard psychomoteur associé à un trouble déficit de l'attention/hyperactivité (TDAH) s'observe fréquemment."},"de":{"name":"Noonan-ähnliches Syndrom mit losem Anagenhaar","synonyms":["NS/LAH","Tosti-Syndrom"],"definition":"Das Noonan-ähnliche Syndrom mit losem Anagenhaar (NS/LAH) ist ein Noonan-verwandtes Syndrom, das durch Gesichtsanomalien gekennzeichnet ist, die auf das Noonan-Syndrom hinweisen (s. dort) in Kombination mit einer ausgeprägten Haaranomalie, die als 'loses Anagenhaar' bezeichnet wird (Lose Anagenhaar-Syndrom, s.dort). Zu den weiteren Merkmalen gehören häufige angeborene Herzfehler, spezifische Hautmerkmale mit dunkel pigmentierter Haut, Keratose pilaris, Ekzemen oder gelegentlicher neonataler Ichtyose (siehe diesen Begriff) sowie Kleinwuchs, der oft mit einem GH-Mangel einhergeht und mit psychomotorischen Entwicklungsverzögerungen verbunden ist."},"es":{"name":"Trastorno de síndrome similar a Noonan con cabello anágeno suelto","synonyms":["NS/LAH","Síndrome de Tosti","Trastorno de síndrome de Noonan-like con cabello anágeno suelto"],"definition":"Es un síndrome relacionado con el síndrome de Noonan y caracterizado por anomalías faciales sugestivas del síndrome de Noonan, cabello anágeno suelto, defectos cardíacos congénitos frecuentes, rasgos cutáneos distintivos (piel de pigmentación oscura, queratosis pilaris, eccema o ictiosis) y talla baja que se suele asociar con una deficiencia de hormona del crecimiento. Con frecuencia se observa retraso psicomotor con trastorno por déficit de atención con hiperactividad (TDAH)."},"it":{"name":"Sindrome Noonan-simile con capelli caduchi in fase anagen","synonyms":["NS/LAH","Sindrome di Tosti"],"definition":"Si tratta di una malattia correlata alla sindrome di Noonan, caratterizzata da dismorfismi facciali suggestivi della sindrome di Noonan, capelli caduchi in anagen, cardiopatie frequenti, sintomi cutanei tipici (pigmentazione scura della cute, cheratosi pilare, eczema o ittiosi) e bassa statura spesso associata ad un deficit dell'ormone della crescita. È comune il ritardo psicomotorio con deficit di attenzione/iperattività (ADHD)."},"nl":{"name":"Syndroom van Noonan-achtige aandoening met loszittend anageen haar","synonyms":["NS/LAH","Syndroom van Mazzanti"],"definition":"Een aandoening gerelateerd aan syndroom van Noonan, gekarakteriseerd door faciale anomalieën die doen denken aan syndroom van Noonan, loszittend anageen haar, frequente congenitale hartdefecten, typische kenmerken van huid (donker gepigmenteerde huid, keratosis pilaris, eczeem of ichthyosis), en kleine gestalte die vaak geassocieerd is met deficiëntie van een groeihormoon. Psychomotorische achterstand met aandachtstekortstoornis met hyperactiviteit (ADHD) wordt vaak waargenomen."},"pt":{"name":"Síndrome Noonan-like com cabelo em fase anágena solto","synonyms":["Síndrome Noonan-like"]},"pl":{"name":"Zaburzenie podobne do zespołu Noonan z luźnymi włosami anagenowymi","synonyms":["NS/LAH","Zespół Tosti"]},"cs":{"name":"Porucha podobná Noonanové syndromu, s řídkými vlasy ve fázi anagenu","synonyms":["NS/LAH","Tostiové syndrom"]},"uk":{"name":"Захворювання, подібне до синдрому Нунана, з випаданням анагенного волосся","synonyms":["Синдром Маццанті","NS/LAH"],"definition":"A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed."},"zh":{"name":"Noonan综合征样异常伴生长期头发松动","synonyms":["Tosti综合征"]},"tr":{"name":"Anajen saç güçsüzlüğü ile seyreden Noonan sendromu benzeri bozukluk","synonyms":["NS / LAH","Tosti sendromu"]}},"xrefs":[{"source":"OMIM","code":"607721","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617506","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"390867420"},{"source":"MONDO","code":"0011899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843181","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10719","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98733,"name":"Noonan syndrome and Noonan-related syndrome","classifications":[147,148,156]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":98576,"name":"Syndromic outer canthal malposition","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"PPP1CB","name":"protein phosphatase 1 catalytic subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27264673[PMID]_27868344[PMID]_28211982[PMID]","hgnc":"9282","ensembl":"ENSG00000213639","omim":"600590","loci":["2p23.2"]},{"symbol":"SHOC2","name":"SHOC2 leucine rich repeat scaffold protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19684605[PMID]","hgnc":"15454","ensembl":"ENSG00000108061","omim":"602775","loci":["10q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":null,"terms":[{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}