{"orpha":2617,"name":"Microcephalic primordial dwarfism, Montreal type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Bird-headed dwarfism, Montreal type"],"definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2617/","orphanet_url":"https://www.orpha.net/en/disease/detail/2617","names":{"fr":{"name":"Nanisme microcéphalique primordial type Montréal","synonyms":["Nanisme à tête d'oiseau type Montréal"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une forme sévère de petite taille et une dysmorphie craniofaciale (microcéphalie, visage étroit avec des joues plates, ptosis, nez proéminent avec une arête convexe, oreilles d'implantation basse et des lobes petits ou absents, palais arqué ou fente palatine, micrognathie), en association avec un grisonnement prématuré et une perte des cheveux, une peau redondante, sèche et ridée des paumes, une sénilité prématurée et une déficience intellectuelle de divers degrés. Une cryptorchidie et des anomalies squelettiques peuvent également être observées. Aucun cas n'a été décrit dans la littérature depuis 1970."},"de":{"name":"Kleinwuchs, mikrozephaler primordialer, Typ Montreal","synonyms":["Vogelkopf-Kleinwuchs Typ Montreal"],"definition":"Ein seltenes, genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch starke Kleinwüchsigkeit und kraniofazialen Dysmorphien (Mikrozephalie, schmales Gesicht mit flachen Wangen, Ptosis, prominente Nase mit konvexem Grat, tief angesetzte Ohren mit kleinen oder fehlenden Lappen, hochgewölbter/spitzer Gaumen, Mikrognathie) gekennzeichnet ist und mit vorzeitigem Ergrauen und Verlust der Kopfhaare, redundanter, trockener und faltiger Haut der Handflächen, vorzeitiger Senilität und unterschiedlichen Graden von Intelligenzminderung einhergeht. Kryptorchismus und Skelettanomalien können ebenfalls beobachtet werden. Seit 1970 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Talla baja significativa primordial microcefálica tipo Montreal","synonyms":["Enanismo con cabeza de pájaro tipo Montreal","Enanismo primordial microcefálico tipo Montreal"],"definition":"Es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por talla baja grave y dismorfia craneofacial (microcefalia, cara estrecha con mejillas planas, ptosis, nariz prominente con una cresta convexa, orejas de baja implantación con lóbulos pequeños o ausentes, paladar hendido / ojival, micrognatia), asociados a canas prematuras y pérdida de cabello, piel redundante, seca y arrugada en las palmas , senilidad prematura y diversos grados de discapacidad intelectual. También se puede observar criptorquidia y anomalías esqueléticas. No se han descrito nuevos casos en la literatura desde 1970."},"it":{"name":"Nanismo primitivo microcefalico tipo Montreal","definition":"Il nanismo primitivo microcefalico tipo Montreal è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da statura notevolmente bassa e dismorfismi craniofacciali (microcefalia, volto stretto con guance appiattite, ptosi, naso prominente con cresta convessa, orecchie a basso impianto con lobi piccoli o assenti, palato ogivale o palatoschisi, micrognazia), associati a incanutimento precoce e perdita dei capelli, cute ridondante, secca e rugosa sul palmo delle mani, invecchiamento precoce e disabilità intellettiva di grado variabile. Possono associarsi criptorchidismo e anomalie scheletriche. Non sono stati descritti nuovi casi dopo il 1970."},"nl":{"name":"Microcefale primordiale dwerggroei, Montreal-type","synonyms":["Vogelkopachtige dwerggroei, Montreal-type"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd wordt ernstige kleine gestalte en craniofaciale dysmorfie (microcefalie, smal gelaat met platte kaken, ptose, uitgesproken neus met convexe rug, laagstaande oren met kleine of afwezige oorlellen, hoog gebogen/gespleten verhemelte, micrognathie), geassocieerd met premature vergrijzing en verlies van hoofdhaar, overtollige, droge en gerimpelde huid op de handpalmen, premature seniliteit en variabele gradaties van intellectuele achterstand. Cryptorchidie en skeletanomalieën kunnen ook waargenomen worden. Sinds 1970 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Nanismo microcefálico primordial, tipo Montreal","synonyms":["Nanismo \"cabeça de pássaro\", tipo Montreal"]},"pl":{"name":"Karłowatość pierwotna z małogłowiem typu Montreal","synonyms":["Bird-headed dwarfism, Montreal type"],"definition":"*Karłowatość pierwotna z małogłowiem typu Montreal jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad/zespołem dysmorficznym, który charakteryzuje się wybitnie niskim wzrostem i dysmorfią twarzoczaszki (małogłowie, wąska twarz z płaskimi policzkami, opadanie powiek, wydatny nos z wypukłym grzbietem, nisko osadzone uszy z małymi płatkami usznymi lub ich brakiem, wysokie podniebienie/rozszczep podniebienia, mikrognacja), z towarzyszącym przedwczesnym siwieniem i łysieniem, pomarszczeniem skóry dłoni, przedwczesnym starzeniem niepełnosprawnością intelektualną o różnym stopniu nasilenia. Obserwowano również wnętrostwo i wady układu kostnego. Od 1970 r. nie ma nowych opisów w literaturze."},"cs":{"name":"Trpaslictví s ptačí hlavou, montrealský typ","synonyms":["Bird-headed dwarfism, Montreal type"]},"uk":{"name":"Мікроцефальний примордіальний нанізм, Монреальський тип","synonyms":["Птахоголова карликовість, монреальський тип"],"definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970."},"zh":{"name":"小头先天性侏儒症，Montreal型","synonyms":["鸟头侏儒症，Montreal型"]},"tr":{"name":"Mikrosefalik primordiyal cücelik, Montreal tipi","synonyms":["Kuş-başlı cücelik, Montreal tipi"]}},"xrefs":[{"source":"OMIM","code":"210700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008870","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859468","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"895","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"5458566[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5458566[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004399","label":"Congenital pyloric atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","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:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null}]}}