{"orpha":319671,"name":"Alazami syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephalic primordial dwarfism, Alazami type"],"definition":"A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319671/","orphanet_url":"https://www.orpha.net/en/disease/detail/319671","names":{"fr":{"name":"Syndrome d'Alazami","synonyms":["Nanisme microcéphalique primordial type Alazami"],"definition":"Forme rare de nanisme primordial, souvent microcéphalique, caractérisée par une petite taille, un retard global de développement, une déficience intellectuelle variable et une dysmorphie faciale typique (visage triangulaire, front proéminent, yeux profondément enfoncés dans les orbites, oreilles d'implantation basse, nez large, hypoplasie malaire, bouche large, lèvres épaisses et dents très espacées)."},"de":{"name":"Alazami-Syndrom","synonyms":["Kleinwuchs, mikrozephaler primordialer, Typ Alazami"],"definition":"Eine seltene Form des primordialen Kleinwuchses, häufig mikrozephal, verbunden mit globaler Entwicklungsverzögerung, variabler Intelligenzminderung und charakteristischen Gesichtsdysmorphien (dreieckiges Gesicht, prominente Stirn, tiefliegende Augen, tiefsitzende Ohren, breite Nase, Malarhypoplasie, breiter Mund, dicke Lippen und weit auseinander stehende Zähne)."},"es":{"name":"Síndrome de Alazami","synonyms":["Enanismo primordial microcefálico tipo Alazami"],"definition":"Es una forma poco frecuente de talla baja primordial, a menudo microcefálica, caracterizada por talla baja, retraso global del desarrollo, discapacidad intelectual variable y rasgos faciales dismórficos distintivos (cara triangular, frente prominente, ojos hundidos, orejas de implantación baja, nariz ancha, hipoplasia malar, boca ancha, labios gruesos y dientes ampliamente separados)."},"it":{"name":"Sindrome di Alazami","definition":"Si tratta di una forma rara di nanismo primordiale, spesso microcefalico, caratterizzata da bassa statura, ritardo dello sviluppo globale, disabilità intellettiva di gravità variabile e dismorfismi facciali tipici (viso triangolare, fronte prominente, occhi infossati, orecchie a basso impianto, naso largo, ipoplasia malare, bocca larga, labbra spesse e denti iperdistanziati)."},"nl":{"name":"Syndroom van Alazami","synonyms":["Microcefale primordiale dwerggroei, Alazami-type"],"definition":"Een zeldzame vorm van primordiale dwerggroei, vaak microcefaal, gekarakteriseerd door kleine gestalte, algehele ontwikkelingsachterstand, variabele intellectuele achterstand, en herkenbare dysmorfe gelaatskenmerken (driehoekig aangezicht, prominent voorhoofd, diepliggende ogen, laagstaande oren, brede neus, hypoplasie van jukbeenderen, brede mond, dikke lippen, en ver uit elkaar staande tanden)."},"pt":{"name":"Síndrome Alazami","synonyms":["Nanismo primordial microcefálico, tipo Alazami"]},"pl":{"name":"Pierwotna karłowatość mikrocefaliczna typu Alazamiego","synonyms":["Microcephalic primordial dwarfism, Alazami type"],"definition":"*Pierwotna karłowatość mikrocefaliczna typu Alazamiego, jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się ciężką niepełnosprawnością intelektualną, wyraźną dysmorfią twarzy (trójkątna twarz z wydatnym czołem, wąskie szpary powiekowe, głęboko osadzone oczy, nisko osadzone uszy, szeroki nos, niedorozwój kości jarzmowej, krótka rynienka podnosowa, duże usta, szeroko rozstawione zęby) i proporcjonalnym niskim wzrostem, zarówno w okresie pre- jak i postnatalnym, od karłowatości pierwotnej (wzrost poniżej -3,5 SD) do łagodniejszego fenotypu z mniej nasilonym zahamowaniem wzrastania (wzrost poniżej -2,5 SD). Inne opisywane objawy dotyczą układu kostnego (np. skolioza) oraz obejmują małogłowie, mimowolne ruchy rąk, nadwrażliwość na bodźce i problemy behawioralne, takie jak lęk."},"cs":{"name":"Mikrocefalické primordiální trpaslictví, Alazamiho typ","synonyms":["Microcephalic primordial dwarfism, Alazami type"]},"uk":{"name":"Синдром Алазамі","synonyms":["Мікроцефальна первинна карликовість, тип Алазамі"],"definition":"A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth)."},"zh":{"name":"Alazami型小头原发性侏儒症","synonyms":["Alazami综合征"],"definition":"Alazami型小头原发性侏儒症是胚胎发育综合征中一种罕见的遗传性发育缺陷，其特征为严重的智力障碍、明显的面部畸形(即三角脸型，前额突出、睑裂狭窄、眼睛深陷、耳低、鼻宽、颧骨发育不全、人中短、巨口、牙齿间距大)以及出生前后相称的矮小身材，范围从原始侏儒症(身高低于-3.5标准差)到较轻的表型，生长限制不太严重(身高低于-2.5标准差)。其他报道的特征包括骨骼异常(如脊柱侧凸)、小头畸形、手的不自主运动、对刺激过敏和行为问题，如焦虑。"},"tr":{"name":"Mikrosefalik primordiyal cücelik, Alazami tipi","synonyms":["Alazami sendromu"]}},"xrefs":[{"source":"OMIM","code":"615071","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014031","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554439","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"LARP7","name":"La ribonucleoprotein 7, transcriptional regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22865833[PMID]","hgnc":"24912","ensembl":"ENSG00000174720","omim":"612026","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"22865833[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22865833[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-01","source":"30006060[PMID]_26374271[PMID]_22865833[PMID]","terms":[{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}