{"orpha":2623,"name":"Geleophysic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Geleophysic dwarfism"],"definition":"A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'').","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2623/","orphanet_url":"https://www.orpha.net/en/disease/detail/2623","names":{"fr":{"name":"Dysplasie géléophysique","synonyms":["Nanisme géléophysique"],"definition":"La dysplasie géléophysique est une dysplasie squelettique rare caractérisée par une petite taille, d'importantes anomalies des mains et des pieds, et un faciès charactéristique (décrit comme ''joyeux'')."},"de":{"name":"Kleinwuchs, geleophysischer","synonyms":["Dysplasie, geleophysische"],"definition":"Die Geleophysische Dysplasie ist eine seltene Skelettdysplasie und gekennzeichnet durch Kleinwuchs, prominente Fehlbildungen der Hände und Füße und ein charakteristisches (als ''happy'' beschriebenes) Gesicht."},"es":{"name":"Displasia geleofísica","synonyms":["Enanismo geleofísico"],"definition":"Es una displasia esquelética muy rara, caracterizada por talla baja, anomalías prominentes en manos y pies, y un aspecto facial característico (descrito como ''feliz'')."},"it":{"name":"Displasia geleofisica","synonyms":["Nanismo geleofisico"],"definition":"La displasia geleofisica è una rara displasia scheletrica caratterizzata da bassa statura, grossolane anomalie delle mani e dei piedi e facies caratteristica (descritta come \"felice\")."},"nl":{"name":"Geleofysische dysplasie","synonyms":["Geleofysische dwerggroei"],"definition":"Een zeldzame skeletdysplasie gekarakteriseerd door kleine gestalte, opvallende afwijkingen aan handen en voeten, en een karakteristiek gelaat (beschreven als \"blij'')."},"pt":{"name":"Nanismo geleofísico","definition":"A displasia geleofísica é uma displasia esquelética rara caracterizada por baixa estatura, anomalias nas mãos e pés e uma aparência facial característica (descrita como \"feliz'')."},"pl":{"name":"Dysplazja geleofizyczna","synonyms":["Niskorosłość geleofizyczna"]},"cs":{"name":"Geleofyzická dysplázie","synonyms":["Geleofyzické trpaslictví"]},"uk":{"name":"Гелеофізична дисплазія","synonyms":["Гелеофізична карликовість"],"definition":"A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')."},"zh":{"name":"Geleophysic发育不良","synonyms":["猫体侏儒"]},"tr":{"name":"Geleofizik displazi","synonyms":["Geleofizik cücelik"]}},"xrefs":[{"source":"OMIM","code":"231050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614185","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617809","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"518828851"},{"source":"MONDO","code":"0000127","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3489726","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2449","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ADAMTSL2","name":"ADAMTS like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301776[PMID]","hgnc":"14631","ensembl":"ENSG00000197859","omim":"612277","loci":["9q34.2"]},{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301776[PMID]_21683322[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]},{"symbol":"LTBP3","name":"latent transforming growth factor beta binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27068007[PMID]","hgnc":"6716","ensembl":"ENSG00000168056","omim":"602090","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"15088061[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":"2025-03-07","source":"20301776[PMID]_33082559[PMID]_39705488[PMID]_30195254[PMID]_30057829[PMID]","terms":[{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040261","label":"Increased size of nasopharyngeal adenoids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034392","label":"Joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034281","label":"Phalangeal cone-shaped epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011428","label":"Short fetal femur length","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034350","label":"Valvular pulmonary stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null}]}}