{"orpha":464288,"name":"Short stature-brachydactyly-obesity-global developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SBIDDS"],"definition":"A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464288/","orphanet_url":"https://www.orpha.net/en/disease/detail/464288","names":{"fr":{"name":"Syndrome de petite taille-brachydactylie-obésité-retard global de développement","synonyms":["SBIDDS"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par une petite taille, une brachydactylie des mains et une hypoplasie des phalanges distales, un retard de développement global, une déficience intellectuelle et, de façon plus inconstante, des crises d'épilepsie, l'obésité et une dysmorphie cranio-faciale comprenant une microcéphalie, un front haut, un visage plat, un hypertélorisme, des yeux enfoncés dans les orbites, un pont nasal plat, des narines larges, un long philtrum, un vermillon fin et un cou court."},"de":{"name":"Kleinwuchs-Brachydaktylie-Adipositas-globale Entwicklungsverzögerung-Syndrom","definition":"Ein genetisch bedingtes Dysmorphie-Syndrom mit multiplen kongenitalen Anomalien, das durch Kleinwuchs, Handbrachydaktylie mit hypoplastischen distalen Phalangen, globale Entwicklungsverzögerung und Intelligenzminderung gekennzeichnet ist. Weitere Manifestationen in unterschiedlicher Ausprägung sind Krampfanfälle, Adipositas und kraniofaziale Dysmorphien wie Mikrozephalie, hohe Stirn, flaches Gesichtsprofil, Hypertelorismus, tiefliegende Augen, flacher Nasenrücken, abgewinkelte Nasenlöcher, langes Philtrum, dünne Lippen und kurzer Hals."},"es":{"name":"Síndrome de talla baja-braquidactilia-obesidad-retraso global del desarrollo","synonyms":["SBIDDS"],"definition":"Es un síndrome de múltiples anomalías congénitas, de origen genético y poco frecuente caracterizado por talla baja, braquidactilia de la mano con falanges distales hipoplásicas, retraso global del desarrollo, discapacidad intelectual y de manera más variable crisis epilépticas, obesidad y dismorfia craneofacial, incluyendo microcefalia, frente ancha, cara aplanada, hipertelorismo, ojos hundidos, puente nasal plano, narinas separadas, filtrum largo, bermellón del labio fino y cuello corto."},"it":{"name":"Sindrome bassa statura - brachidattilia - obesità - ritardo dello sviluppo globale","definition":"Si tratta di una malattia genetica rara da anomalie congenite multiple, caratterizzata da bassa statura, brachidattilia delle mani con ipoplasia delle falangi distali, ritardo dello sviluppo globale, disabilità intellettiva e, più variabilmente, crisi epilettiche, obesità e dismorfismi craniofacciali (microcefalia, fronte alta, viso appiattito, ipertelorismo, occhi infossati, sella nasale piatta, narici anteverse, filtro lungo, porzione mucosa del labbro sottile e collo corto)."},"nl":{"name":"Kleine gestalte - brachydactylie - obesitas - algemene ontwikkelingsachterstand-syndroom","synonyms":["SBIDDS"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekarakteriseerd door kleine gestalte, brachydactylie van hand met hypoplastische distale falangen, algehele ontwikkelingsachterstand, intellectuele achterstand, en meer variabel insulten, obesitas, en craniofaciale dysmorfie met onder meer microcefalie, hoog voorhoofd, plat aangezicht, hypertelorisme, diepliggende ogen, platte neusbrug, anteversie van neusgaten, lang filtrum, dun vermiljoen van lip, en korte hals."},"pt":{"name":"Síndrome de baixa estaura-braquidactilía-obesidade-perturbação do desenvolvimento global"},"pl":{"name":"Zespół niskiego wzrostu, brachydaktylii, otyłości i opóźnienia rozwoju","synonyms":["SBIDDS"]},"cs":{"name":"Syndrom zahrnující malý vzrůst, brachydaktylii, obezitu a vývojové opoždění","synonyms":["SBIDDS"]},"uk":{"name":"Низькорослість-брахідактилія-ожиріння-глобальна затримка розвитку","synonyms":["SBIDDS"],"definition":"A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck."},"zh":{"name":"身材矮小-短指畸形-肥胖-近身肥胖-前面发育迟缓综合征","synonyms":["SBIDDS"]},"tr":{"name":"Kısa boy-brakidaktili-obezite-yaygın gelişme geriliği sendromu","synonyms":["SBIDDS"]}},"xrefs":[{"source":"OMIM","code":"617157","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014944","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568868","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"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":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"PRMT7","name":"protein arginine methyltransferase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26437029[PMID]","hgnc":"25557","ensembl":"ENSG00000132600","omim":"610087","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26437029[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26437029[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-02","source":"27718516[PMID_28902392[PMID]_26437029[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004689","label":"Short fourth metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031938","label":"Abnormal conus terminalis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000852","label":"Pseudohypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007074","label":"Thick corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}