{"orpha":166024,"name":"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Multiple epiphyseal dysplasia, Al-Gazali type"],"definition":"A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and <i>genu valgum</i>. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and <i>pectus excavatum</i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166024/","orphanet_url":"https://www.orpha.net/en/disease/detail/166024","names":{"fr":{"name":"Syndrome de dysplasie épiphysaire multiple-macrocéphalie-dysmorphie faciale","synonyms":["Dysplasie épiphysaire multiple type Al-Gazali"],"definition":"Dysplasie osseuse primaire rare, caractérisée par l'association d'une dysplasie épiphysaire multiple accompagnée d'une macrocéphalie et d'une dysmorphie faciale (saillie des bosses frontales, hypertélorisme, région malaire aplatie, oreilles d'implantation basse et cou court). Les patients sont de taille normale et présentent un gonflement des articulations et un genu valgum. Les autres manifestations rapportées comprennent clinodactylie, doigts fusiformes et pectus excavatum (thorax en entonnoir)."},"de":{"name":"Multiple epiphysäre Dysplasie-Makrozephalie-Gesichtsdysmorphie-Syndrom","synonyms":["Dysplasie, epiphysäre multiple, Typ Al-Gazali"],"definition":"Eine seltene primäre Knochendysplasie, die durch die Assoziation multipler epiphysärer Dysplasien mit Makrozephalie und Gesichtsdysmorphien (wie Balkonstirn, Hypertelorismus, flacher Malarbereich, tief angesetzte Ohren und kurzer Hals) gekennzeichnet ist. Die Patienten haben eine normale Statur und weisen Gelenkschwellungen und ein Genu valgum auf. Als weitere Symptome werden Klinodaktylie, spindelförmige Finger und Pectus excavatum berichtet."},"es":{"name":"Síndrome de displasia epifisaria múltiple-macrocefalia-dismorfia facial","synonyms":["Displasia epifisaria múltiple tipo Al-Gazali"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por displasia epifisaria múltiple asociada a macrocefalia y a rasgos faciales dismórficos (como frente prominente, hipertelorismo, aplanamiento de la región malar, orejas de implantación baja y cuello corto). Los pacientes alcanzan una talla adulta normal y se presentan con inflamación articular y <i>genu valgum</i>. Otras manifestaciones descritas son clinodactilia, dedos ahusados y <i>pectus excavatum</i>."},"it":{"name":"Sindrome displasia epifisaria multipla-macrocefalia-dismorfismi facciali","synonyms":["Displasia epifisaria multipla, tipo Al Gazali","Displasia epifisaria multipla, tipo Al-Gazali"],"definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da displasia epifisaria multipla, macrocefalia e dismorfismi facciali (fronte bombata, ipertelorismo, appiattimento della regione malare, orecchie a basso impianto e collo corto). La statura è normale. I pazienti presentano gonfiore articolare e ginocchio valgo. Altri segni clinici sono la clinodattilia, le dita affusolate e il pectus excavatum."},"nl":{"name":"Multipele epifysaire dysplasie - macrocefalie - faciale dysmorfie-syndroom","synonyms":["Multipele epifysaire dysplasie, Al-Gazali-type"],"definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door de associatie van multipele epifysaire dysplasie met macrocefalie en dysmorfe gelaatskenmerken (zoals boller voorhoofd, hypertelorisme, platte jukbeenderen, laagstaande oren, en korte hals). Patiënten hebben een normale gestalte en presenteren zich met gezwollen gewrichten en genu valgum (X-benen). Bijkomende manifestaties die worden gerapporteerd, zijn onder meer clinodactylie, spoelvormige vingers, en pectus excavatum."},"pt":{"name":"Síndrome de displasia epifisária múltipla-macrocefalia-dismorfia facial","synonyms":["Displasia epifisária múltipla, tipo Al-Gazali"]},"pl":{"name":"Dysplazja wielonasadowa, typ Al-Gazali","synonyms":["Zespół dysplazji wielonasadowej, wielkogłowia i dysmorfii twarzy"]},"cs":{"name":"Mnohočetná epifyzární dysplázie, Al-Gazaliové typ","synonyms":["Syndrom zahrnující mnohočetnou epifyzární dysplázii, makrocefalii a specifický faciální dysmorfismus"]},"uk":{"name":"Синдром множинної епіфізарної дисплазії-макроцефалії-лицевого дизморфізму","synonyms":["Множинна епіфізарна дисплазія типу Аль-Газалі","Множинна епіфізарна дисплазія, тип Аль-Газалі"],"definition":"A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and <i>genu valgum</i>. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and <i>pectus excavatum</i>."},"zh":{"name":"Al-Gazali型多发性骨骺发育不良","synonyms":["多发性骨骺发育不良-大头畸形-特征性面容综合征"],"definition":"Al-Gazali型多发性骨骺发育不良是一种以多发性骨骺发育不良(见该词条)、大头畸形和面部畸形为特征的骨骼发育不良。"},"tr":{"name":"Çoklu epifiz displazisi, Al-Gazali tipi","synonyms":["çoklu epifizeal displazi-makrosefali-karakteristik yüz sendromu"]}},"xrefs":[{"source":"OMIM","code":"607131","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1359939784"},{"source":"MONDO","code":"0011778","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304500","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":251,"name":"Multiple epiphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"KIF7","name":"kinesin family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22587682[PMID]","hgnc":"30497","ensembl":"ENSG00000166813","omim":"611254","loci":["15q26.1"]}],"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":"11389160[PMID]_9689990[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11389160[PMID]_9689990[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-16","source":"23431744PMID]_22587682[PMID]","terms":[{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003037","label":"Enlarged joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031092","label":"Spindle-shaped finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000207","label":"Triangular mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very rare (<4-1%)","criteria":null}]}}