{"orpha":93333,"name":"Pelviscapular dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cousin syndrome","Familial pelvis-scapular dysplasia"],"definition":"A rare dysostosis characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, short stature and craniofacial abnormalities. Facial dysmorphism is characterized by macrocephaly with frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and low hairline.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93333/","orphanet_url":"https://www.orpha.net/en/disease/detail/93333","names":{"fr":{"name":"Dysplasie pelviscapulaire","synonyms":["Dysplasie pelviscapulaire familiale","Syndrome de Cousin"],"definition":"Dysostose rare caractérisée par l'association d'une dysplasie pelviscapulaire, d'anomalies épiphysaires, d'une petite taille et d'anomalies craniofaciales. La dysmorphie faciale se caractérise par une macrocéphalie avec front proéminent, un hypertélorisme, des fentes palpébrales étroites, des yeux enfoncés dans les orbites, un strabisme, des oreilles d'implantation basse, orientées vers l'arrière et malformées, une dysplasie des cornets, un petit menton, un cou court avec des plis cutanés excédentaires et une ligne frontale basse."},"de":{"name":"Dysplasie, pelvi-skapuläre","synonyms":["Becken-Scapula-Dysplasie, familiäre","Cousin-Syndrome"],"definition":"Die Pelvi-skapuläre Dysplasie (Cousin-Syndrom) ist gekennzeichnet durch die Assoziation von pelvi-skapulärer Dysplasie mit Anomalien der Epiphysen, angeborenem Kleinwuchs und fazialen Dysmorphien."},"es":{"name":"Síndrome de Cousin-Walbraum-Cegarra","definition":"Es una disostosis poco frecuente caracterizada por la asociación de displasia pélvico-escapular con anomalías epifisarias, talla baja y anomalías craneofaciales. La dismorfia facial está caracterizada por macrocefalia con abombamiento frontal, hipertelorismo, fisuras palpebrales estrechas, ojos hundidos, estrabismo, orejas de implantación baja, rotadas posteriormente y malformadas, displasia de los cornetes, mentón pequeño, cuello corto con pliegues cutáneos redundantes y línea de implantación del cabello baja."},"it":{"name":"Sindrome di Cousin-Walbraum-Cegarra"},"nl":{"name":"Pelviscapulaire dysplasie","synonyms":["Familiale dysplasie van bekken en schouderblad","Familiale dysplasie van pelvis en scapula","Syndroom van Cousin"],"definition":"Een zeldzame dysostose, gekenmerkt door de associatie van dysplasie van pelvis en scapula met afwijkingen van epifysaire groei, kleine gestalte en craniofaciale afwijkingen. Faciale dysmorfie wordt gekenmerkt door macrocefalie met bol voorhoofd, hypertelorisme, smalle ooglidspleten, diepliggende ogen, strabisme, laagstaande, naar achteren gedraaide en misvormde oren, dysplasie van oorschelp, kleine kin, korte hals met overtollige huidplooien, en lage haarlijn."},"pt":{"name":"Displasia pelviscapular","synonyms":["Displasia pelviscapular familiar","Síndrome Cousin"]},"pl":{"name":"Dyspazja miedniczno-łopatkowa","synonyms":["Rodzinna dyspazja miedniczno-łopatkowa","Zespół Cousina"]},"cs":{"name":"Pelviskapulární dysplázie","synonyms":["Familiární dysplázie pánve a lopatky","Cousinův syndrom"]},"uk":{"name":"Тазово-лопаткова дисплазія","synonyms":["Синдром Кузена","Сімейна тазово-лопаткова дисплазія"],"definition":"Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism."},"zh":{"name":"肩胛骨盆发育不良","synonyms":["家族性骨盆-肩胛骨发育不良"],"definition":"骨盆发育不良（Cousin综合征）的特点是骨盆发育不良伴骨骺异常、先天性侏儒症和面部畸形。"},"tr":{"name":"Pelviskapular displazi","synonyms":["Cousin sendromu","Ailesel pelvis-skapular displazi"]}},"xrefs":[{"source":"OMIM","code":"260660","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009845","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850040","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"TBX15","name":"T-box transcription factor 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19068278[PMID]_24039145[PMID]","hgnc":"11594","ensembl":"ENSG00000092607","omim":"604127","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19068278[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19068278[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-05","source":"19068278[PMID]","terms":[{"hpo":"HP:0003943","label":"Abnormality of the joint spaces of the elbow","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003041","label":"Humeroradial synostosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004987","label":"Mesomelic leg shortening","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}