{"orpha":2484,"name":"Melnick-Needles syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Melnick-Needles osteodysplasty"],"definition":"Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2484/","orphanet_url":"https://www.orpha.net/en/disease/detail/2484","names":{"fr":{"name":"Syndrome de Melnick-Needles","synonyms":["Ostéodysplasie de Melnick-Needles"],"definition":"Maladie du spectre des ostéodysplasies fronto-oto-paloto-digitales associée à une petite taille, une dysmorphie faciale, des anomalies affectant la majorité des os du squelette axial et appendiculaire, entraînant des troubles de l'élocution et des problèmes de mastication."},"de":{"name":"Melnick-Needles-Syndrom","synonyms":["Osteodysplastie Typ Melnick-Needles"]},"es":{"name":"Síndrome de Melnick-Needles","synonyms":["Osteodisplasia de Melnick-Needles"],"definition":"Pertenece a los trastornos del espectro del síndrome oto-palato-digital y está asociado a talla baja, dismorfia facial, anomalías óseas con afectación de gran parte del esqueleto axial y apendicular, resultando en trastornos del habla y problemas de masticación."},"it":{"name":"Sindrome di Melnick-Needles","synonyms":["Osteodisplasia di Melnick-Needles"]},"nl":{"name":"Syndroom van Melnick-Needles","synonyms":["Osteodysplasie van Melnick-Needles"],"definition":"Syndroom van Melnick-Needles (MNS) behoort tot de otopalatodigitaal syndroom-spectrumstoornis en is geassocieerd met een kleine gestalte, faciale dysmorfie, osseuze afwijkingen met betrokkenheid van het merendeel van het axiale en appendiculaire skelet, met als resultaat spraakstoornis en problemen met kauwen."},"pt":{"name":"Síndrome Melnick-Needles","synonyms":["Osteodisplasia de Melnick-Needles"]},"pl":{"name":"Zespół Melnicka i Needlesa","synonyms":["Osteodysplazja Melnicka i Needlesa"]},"cs":{"name":"Melnickův-Needlesův syndrom","synonyms":["Melnickova-Needlesova osteodysplázie","Melnick-Needlesův syndrom","Melnick-Needlesova osteodysplázie"]},"uk":{"name":"Синдром Мельника-Нідлза","synonyms":["Остеодиспластика голками Мельника"],"definition":"Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems."},"zh":{"name":"Melnick-Needles综合征","synonyms":["Melnick-Needles骨发育不良"]},"tr":{"name":"Melnick-Needles sendromu","synonyms":["Melnick-Needles osteodisplasti"]}},"xrefs":[{"source":"OMIM","code":"309350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2100781650"},{"source":"MONDO","code":"0010650","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025237","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":364541,"name":"Otopalatodigital syndrome spectrum disorder","classifications":[147,156,199]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":519272,"name":"Structural developmental eye defect","classifications":[147,189]},{"orpha":522536,"name":"Structural developmental eye defect of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20186808[PMID]_21031081[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"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":"2017-12-07","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003172","label":"Abnormality of the pubic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002879","label":"Anisospondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009771","label":"Osteolytic defects of the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}