{"orpha":3369,"name":"Trigonocephaly-short stature-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Say-Meyer syndrome"],"definition":"A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3369/","orphanet_url":"https://www.orpha.net/en/disease/detail/3369","names":{"fr":{"name":"Syndrome de trigonocéphalie-petite taille-retard de croissance","synonyms":["Syndrome de Say-Meyer"],"definition":"Crâniosynostose syndromique rare caractérisée par une trigonocéphalie, une crête de la suture métopique proéminente, une petite taille et un retard de développement. La dysmorphie peut également inclure un front étroit avec un rétrécissement bitemporal, des sourcils arqués, des yeux profondément situés dans les orbites, un épicanthus, un hypotélorisme, un strabisme, un pont nasal large, un nez petit et pointu, des narines antéversées, un philtrum long, une implantation basse des oreilles, un aplatissement malaire, une bouche étroite, des lèvres fines, un palais ogival, un encombrement dentaire et une micrognathie. Les autres manifestations sont variables et peuvent inclure une surdité de transmission, des anomalies cérébrales (affectant principalement la substance blanche), squelettiques (par exemple une brachymésophalangie du 5<sup>e</sup>doigt), cardiovasculaires et rénales, une hernie inguinale, un hypospadias et des crises convulsives. Aucun nouveau cas n' été décrit dans la littérature depuis 1981."},"de":{"name":"Trigonozephalie-Kleinwuchs-Entwicklungsverzögerung-Syndrom","synonyms":["Say-Meyer-Syndrom"],"definition":"Ein seltenes syndromales Kraniosynostose-Syndrom, das durch Trigonozephalie, eine ausgeprägte metopische Leiste, Kleinwuchs und Entwicklungsverzögerung gekennzeichnet ist. Zu den dysmorphen Merkmalen können auch eine schmale Stirn mit beidseitiger Verengung, gewölbte Augenbrauen, tief liegende Augen, Epikanthusfalten, Hypotelorismus, Strabismus, breite Nasenwurzel, kleine spitze Nase, nach vorne geneigte Nasenlöcher, langes Philtrum, tief sitzende Ohren, abgeflachte Jochbeine, kleine Mundöffnung, dünne Lippen, hoher Gaumenbogen, engstehende Zähne und Mikrognathie gehören. Zu den variablen zusätzlichen Manifestationen können Schallleitungsschwerhörigkeit, zerebrale (hauptsächlich die weiße Substanz betreffend), skelettale (z. B. Brachymesophalangie der fünften Finger), kardiovaskuläre und renale Anomalien, Leistenbruch, Hypospadie und Krampfanfälle gehören. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de trigonocefalia-talla baja-retraso de crecimiento","synonyms":["Síndrome de Say-Meyer"],"definition":"Es una craneosinostosis sindrómica poco frecuente, caracterizada por trigonocefalia, cresta metópica prominente, talla baja y retraso del desarrollo. Los rasgos dismórficos también pueden incluir frente estrecha con estrechamiento bitemporal, cejas arqueadas, ojos hundidos, pliegues epicánticos, hipotelorismo, estrabismo, puente nasal ancho, nariz pequeña y puntiaguda, fosas nasales antevertidas, surco nasolabial largo, orejas de implantación baja, aplanamiento malar, boca estrecha, labios finos, paladar ojival, apiñamiento dental y micrognatia. Otras manifestaciones variables pueden incluir hipoacusia conductiva, anomalías cerebrales (que afectan principalmente a la sustancia blanca), esqueléticas (incluyendo la braquimesofalangia del quinto dedo), cardiovasculares y renales, hernia inguinal, hipospadias y crisis epilépticas. No se han descrito más casos en la literatura desde 1981."},"it":{"name":"Sindrome trigonocefalia-bassa statura-ritardo dello sviluppo","synonyms":["Sindrome di Say-Meyer"],"definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato dalla chiusura prematura delle suture metopiche e/o di altre suture, bassa statura e ritardo dello sviluppo. I dismorfismi comprendono la trigonocefalia, la cresta metopica, la fronte stretta, il restringimento bitemporale, le sopracciglia arcuate, l'ipotelorismo, gli occhi infossati, l'epicanto, lo strabismo, la sella nasale ampia, il naso piccolo appuntito, le narici anteverse, il filtro lungo, le orecchie a basso impianto, l'appiattimento della regione malare, la bocca stretta, le labbra sottili, il palato ogivale, i denti affastellati e la micrognazia. I pazienti possono presentare anche sordità di conduzione, anomalie cerebrali (soprattutto della sostanza bianca), scheletriche (ad es. brachimesofalangia del quinto dito), cardiovascolari e renali, ernia inguinale, ipospadia e crisi epilettiche."},"nl":{"name":"Trigonocefalie - kleine gestalte - ontwikkelingsachterstand-syndroom","synonyms":["Syndroom van Say-Meyer"],"definition":"Een zeldzame syndromale craniosynostose, gekenmerkt door trigonocefalie, uitgesproken metopica-richel, kleine gestalte, en ontwikkelingsachterstand. Andere mogelijke dysmorfe kenmerken zijn onder meer smal voorhoofd met bitemporale vernauwing, gebogen wenkbrauwen, diepliggende ogen, epicanthusplooien, hypotelorisme, strabisme, brede neusbrug, kleine en puntige neus, anteversie van de neusgaten, lang filtrum, laagstaande oren, platte jukbeenderen, smalle mond, dunne lippen, hoog gebogen gehemelte, ruimtegebrek van tanden, en micrognathie. Mogelijke variabele bijkomende manifestaties zijn onder meer conductief gehoorverlies, cerebrale (vooral met betrokkenheid van witte stof), skeletale (waaronder brachymesofalangie van vijfde vingers), cardiovasculaire en renale anomalieën, liesbreuk, hypospadie, en insulten. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de trigonocefalia-baixa estatura-perturbação do desenvolvimento","synonyms":["Síndrome Say-Meyer"]},"pl":{"name":"Trigonocefalia - niski wzrost - opóźnienie w rozwoju","synonyms":["Zespół Say'a i Meyera"]},"cs":{"name":"Syndrom zahrnující trigonocefalii, nízký vzrůst a opoždění vývoje","synonyms":["Sayův-Meyerův syndrom","Say-Meyerův syndrom"]},"uk":{"name":"Синдром тригоноцефалії-низькорослості-затримки розвитку","synonyms":["Синдром Сай-Мейєра"],"definition":"A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures."},"zh":{"name":"三角头畸形-矮小-发育迟缓综合征","synonyms":["Say-Meyer综合征"]},"tr":{"name":"Trigonosefali-kısa boy-gelişme geriliği sendromu","synonyms":["Say-Meyer sendromu"]}},"xrefs":[{"source":"OMIM","code":"314320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010749","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536620","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839125","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"243","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6168197[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6168197[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-06","source":"6168197[PMID]_1271432[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000216","label":"Broad secondary alveolar ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005769","label":"Fifth finger distal phalanx clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005495","label":"Metopic suture patent to nasal root","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011324","label":"Multiple suture craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005494","label":"Premature posterior fontanelle closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000237","label":"Small anterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}