{"orpha":2554,"name":"Ear-patella-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Meier-Gorlin syndrome"],"definition":"A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2554/","orphanet_url":"https://www.orpha.net/en/disease/detail/2554","names":{"fr":{"name":"Syndrome de microtie-anomalies squelettiques-petite taille","synonyms":["Syndrome de Meier-Gorlin"],"definition":"Le syndrome de microtie-anomalies squelettiques-petite taille associe une microtie (hypoplasie sévère des pavillons d'oreilles), une absence de rotules, une petite taille avec croissance faible, et une dysmorphie faciale caractéristique comprenant un front haut, une micrognathie avec lèvres charnues et petite bouche, et une accentuation des sillons naso-géniens (rides du sourire allant de la narine à la commissure)."},"de":{"name":"Ohr-Patella-Kleinwuchs-Syndrom","synonyms":["Meier-Gorlin-Syndrom"],"definition":"Ein seltener mikrozephaler primordialer Kleinwuchs, der durch die Kombination von beidseitiger Mikrotie (schwere Hypoplasie der Ohrmuscheln), fehlenden Patellae, Kleinwuchs und charakteristischen Gesichtsmerkmalen wie hoher Stirn, Mikrogenie mit vollen Lippen und kleinem Mund sowie ausgeprägten Nasolabialfalten (Lachfalten, die die Nasenlöcher mit dem Lippenwinkel verbinden) gekennzeichnet ist."},"es":{"name":"Síndrome de oreja-rótula-talla baja","synonyms":["Síndrome de Meier-Gorlin"],"definition":"Es una forma poco frecuente de talla baja extrema primordial microcefálica caracterizada por la asociación de microtia bilateral (grave hipoplasia de los pabellones auriculares), ausencia de rótula, talla baja y rasgos faciales característicos, como frente alta, micrognatia con labios carnosos y boca pequeña, y pliegues nasolabiales acentuados (arrugas del surco nasogeniano que une las fosas nasales y las comisuras labiales)."},"it":{"name":"Sindrome microtia-agenesia delle rotule-bassa statura","synonyms":["Sindrome di Meier-Gorlin"]},"nl":{"name":"Oor - patella - kleine gestalte-syndroom","synonyms":["Syndroom van Meier-Gorlin"],"definition":"Een zeldzame microcefale primordiale dwerggroei, gekenmerkt door de associatie van bilaterale microtie (ernstige hypoplasie van oorschelpen), afwezige patellae, kleine gestalte, en typische gelaatskenmerken zoals hoog voorhoofd, micrognathie met volle lippen en kleine mond, en geaccentueerde nasolabiale plooien (als rimpels die lopen van neusvleugels tot commissuur van lip)."},"pt":{"name":"Síndrome orelha-rótula-baixa estatura","synonyms":["Síndrome Meier-Gorlin"]},"pl":{"name":"Zespół ucho - rzepka - niski wzrost","synonyms":["Zespół Meiera i Gorlina"],"definition":"Rzadka pierwotna karłowatość mikrocefaliczna charakteryzująca się obustronną mikrocji (ciężki niedorozwój małżowin usznych), brakiem rzepek, niskim wzrostem i charakterystycznymi rysami twarzy, takimi jak wysokie czoło, małożuchwie z pełnymi wargami i małymi ustami oraz uwydatnione bruzdy nosowo-wargowe (zmarszczki uśmiechu łączące nozdrzy ze spoidłem wargowym)."},"cs":{"name":"Syndrom ucho-čéška-nízký vzrůst","synonyms":["Meierův-Gorlinův syndrom","Meier-Gorlinův syndrom"]},"uk":{"name":"Синдром вушної раковини та низького зросту","synonyms":["Синдром Майєра-Горліна"],"definition":"A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)."},"zh":{"name":"耳-髌骨-身材矮小综合征","synonyms":["Meier-Gorlin 综合征"]},"tr":{"name":"Kulak-patella-kısa boy sendromu","synonyms":["Meier-Gorlin sendromu"]}},"xrefs":[{"source":"OMIM","code":"224690","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613803","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613804","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613805","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616835","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617063","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.JY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1051551053"},{"source":"MONDO","code":"0016817","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868684","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070612","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":93455,"name":"Patellar dysostosis","classifications":[147,156,199]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GMNN","name":"geminin DNA replication inhibitor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26637980[PMID]","hgnc":"17493","ensembl":"ENSG00000112312","omim":"602842","loci":["6p22.3"]},{"symbol":"CDC45","name":"cell division cycle 45","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27374770[PMID]","hgnc":"1739","ensembl":"ENSG00000093009","omim":"603465","loci":["22q11.21"]},{"symbol":"CDC6","name":"cell division cycle 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23516378[PMID]_21358632[PMID]","hgnc":"1744","ensembl":"ENSG00000094804","omim":"602627","loci":["17q21.2"]},{"symbol":"CDT1","name":"chromatin licensing and DNA replication factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23516378[PMID]_21358632[PMID]","hgnc":"24576","ensembl":"ENSG00000167513","omim":"605525","loci":["16q24.3"]},{"symbol":"ORC1","name":"origin recognition complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23516378[PMID]_21358632[PMID]","hgnc":"8487","ensembl":"ENSG00000085840","omim":"601902","loci":["1p32.3"]},{"symbol":"ORC4","name":"origin recognition complex subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23516378[PMID]_21358632[PMID]","hgnc":"8490","ensembl":"ENSG00000115947","omim":"603056","loci":["2q23.1"]},{"symbol":"ORC6","name":"origin recognition complex subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23516378[PMID]_21358632[PMID]","hgnc":"17151","ensembl":"ENSG00000091651","omim":"607213","loci":["16q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":67.0,"area":"Worldwide","status":"Validated","source":"26381604[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26381604[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-11","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009939","label":"Mandibular aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011267","label":"Microtia, third degree","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000060","label":"Clitoral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}