{"orpha":2563,"name":"MOMO syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome","Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome"],"definition":"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2563/","orphanet_url":"https://www.orpha.net/en/disease/detail/2563","names":{"fr":{"name":"Syndrome MOMO","synonyms":["Syndrome de macrocéphalie-obésité-déficience intellectuelle-anomalies oculaires","Syndrome de macrosomie-obésité-macrocéphalie-anomalies oculaires"],"definition":"Syndrome rare avec obésité/croissance excessive d'origine génétique caractérisé par une macrocéphalie, une obésité, une déficience intellectuelle et des anomalies oculaires. Les autres signes cliniques courants sont une macrosomie, des fentes palpébrales inclinées vers le bas, un hypertélorisme, un pont nasal large, un front haut et large et un retard de maturation osseuse, en association avec une fonction thyroïdienne et un caryotype normaux."},"de":{"name":"MOMO-Syndrom","synonyms":["Makrosomie-Adipositas-Intelligenzminderung-Augenanomalie-Syndrom","Makrosomie-Adipositas-Makrozephalie-Augenanomalie-Syndrom"],"definition":"Das MOMO-Syndrom ist ein sehr seltenes genetisches Grosswuchs-/Adipositas-Syndrom (siehe diesen Begriff), das durch Makrozephalie, Adipositas, Intelligenzminderung und Augenanomalien gekennzeichnet ist. Weitere häufige klinische Symptome sind Makrosomie, abwärts gerichtete Palpebralspalten, Hypertelorismus, breite Nasenwurzel, hohe und breite Stirn und Verzögerung des Knochenabbaus in Verbindung mit normaler Schilddrüsenfunktion und Karyotyp."},"es":{"name":"Síndrome MOMO","synonyms":["Síndrome de macrocefalia-obesidad-discapacidad intelectual-anomalías oculares","Síndrome de macrosomia-obesidad-macrocefalia-anomalías oculares"],"definition":"El síndrome MOMO es un síndrome genético muy poco frecuente de sobrecrecimiento/obesidad caracterizado por macrocefalia, obesidad, discapacidad intelectual y anomalías oculares. Otros signos clínicos frecuentes incluyen macrosomia, fisuras palpebrales descendentes, hipertelorismo, raíz nasal ancha, frente amplia y retraso de la maduración ósea, en asociación con función tiroidea y cariotipo normales."},"it":{"name":"Sindrome MOMO","synonyms":["Sindrome macrocefalia-obesità-disabilità mentale-anomalie oculari","Sindrome macrosomia-obesità-macrocefalia-anomalie oculari","Sindrome macrocefalia-obesità-disabilità intellettiva-anomalie oculari"],"definition":"La sindrome MOMO è una malattia genetica molto rara, da iperaccrescimento/obesità (si veda questo termine), caratterizzata da macrocefalia, obesità, disabilità mentale (cognitiva) e anomalie degli occhi. Altri segni clinici comuni sono la macrosomia, le rime palpebrali oblique verso il basso, l'ipertelorismo, la radice nasale larga, la fronte alta ed ampia, il ritardo della maturazione ossea, associati a funzione tiroidea e cariotipo normali."},"nl":{"name":"MOMO-syndroom","synonyms":["Macrocefalie - obesitas - intellectuele achterstand - oogafwijkingen-syndroom","Macrosomie - obesitas - macrocefalie - oculaire afwijkingen-syndroom"],"definition":"MOMO-syndroom is een zeer zeldzaam genetisch overmatige groei-/obesitassyndroom (zie deze term) dat gekenmerkt wordt door macrocefalie, obesitas, mentale (intellectuele) achterstand en oogafwijkingen. Andere vaak voorkomende klinische symptomen omvatten macrosomie, schuin naar beneden gerichte oogspleten, hypertelorisme, brede neuswortel, hoog en breed voorhoofd en vertraagde botmaturatie in associatie met een normale schildklierwerking en karyotype."},"pt":{"name":"Síndrome MOMO","synonyms":["Síndrome oculo-dento-digital","Displasia ósseo-oculo-dentária","Síndrome Meyer-Schwickerath-Weyers","Síndrome ODDD","Síndrome ODOD","Síndrome de macrocefalia-obesidade-perturbação do desenvolvimento intelectual-anomalias oculares","Síndrome de macrossomia-obesidade-macrocefalia-anomalias oculares"]},"pl":{"name":"Zespół MOMO","synonyms":["Zespół makrocefalii, otyłości, niepełnosprawności intelektualnej i nieprawidłowości oczu","Zespół makrosomii, otyłości, makrocefalii i nieprawidłowości oczu"]},"cs":{"name":"MOMO syndrom","synonyms":["Syndrom zahrnující makrocefalii, obezitu, mentální retardaci a okulární abnormality","Syndrom zahrnující makrosomii, obezitu, makrocefalii a okulární abnormality"]},"uk":{"name":"Синдром МОМО","synonyms":["Синдром макроцефалії-ожиріння-розумової відсталості- очних аномалій","Синдром макросомії-ожиріння-макроцефалії-очних аномалій"],"definition":"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype."},"zh":{"name":"MOMO综合征","synonyms":["巨头畸形-肥胖-智力缺陷-眼畸形综合征"]},"tr":{"name":"MOMO sendromu","synonyms":["Makrozomi-obezite-makrosefali-oküler anormallikler sendromu","Makrosefali-obezite-zihinsel yetersizlik-oküler anormallikler sendromu"]}},"xrefs":[{"source":"OMIM","code":"157980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"348695820"},{"source":"MONDO","code":"0008008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535812","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834759","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"178","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23034868[PMID]_22821547[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-18","source":"8322820[PMID]_22821547[PMID]_11045586[PMID]_23034868[PMID]_19048502[PMID]_19996736[PMID]","terms":[{"hpo":"HP:0001513","label":"Obesity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001795","label":"Hyperconvex nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","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:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000879","label":"Short sternum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025112","label":"Sound sensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008577","label":"Underfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006585","label":"Congenital pseudoarthrosis of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Excluded (0%)","criteria":null}]}}