About: MOMO syndrome

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MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Danilo Moretti-Ferreira, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalDisorders yago:WikicatMedicalConditionsRelatedToObesity yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	MOMO-Syndrom (de) Síndrome MOMO (es) Syndrome MOMO (fr) Sindrome di MOMO (it) MOMO syndrome (en)
rdfs:comment	Das MOMO-Syndrom, Akronym für Makrozephalie, Obesitas, Mentale Behinderung, Okuläre Auffälligkeiten, ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen. Synonyme sind: Makrosomie-Adipositas-Intelligenzminderung-Augenanomalie-Syndrom; Makrosomie-Adipositas-Makrozephalie-Augenanomalie-Syndrom Die Bezeichnung wurde im Jahre 1993 von den Autoren der Erstbeschreibung, den brasilianischen Ärzten Danilo Moretti-Ferreira und Mitarbeitern, vorgeschlagen. (de) Le Syndrome MOMO est une maladie génétique extrêmement rare qui appartient aux syndromes de surcroissance et qui n'a été diagnostiqué que dans six cas à travers le monde. Son nom est un acronyme de la première lettre des quatre symptômes du syndrome : Macrosomie fœtale (surpoids à la naissance), Obésité, Macrocéphalie (hypertrophie de la tête) et anomalies Oculaires. Le syndrome MOMO a été diagnostiqué pour la première en 1993 par le professeur Célia Priszkulnik Koiffmann, un chercheur brésilien dans les études génétiques et les troubles cliniques du développement neurologique. (fr) El síndrome MOMO es un desorden genético extremadamente raro el cual pertenece a los síndromes de sobrecrecimiento. Ha sido diagnosticado en sólo 6 personas en el mundo con una incidencia de 1 en 100 millones de nacimientos. El nombre es un acrónimo de 4 aspectos que caracterizan a este síndrome: Macrosomía (peso elevado al nacer), Obesidad, Macrocefalia (cráneo aumentado de tamaño) y anormalidades Oculares. Se desconoce si es que el síndrome limita la expectativa de vida de los pacientes. Fue diagnosticado por primera vez en 1993 por la profesora Célia Priszkulnik Koiffmann, una investigadora brasileña. (es) MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Danilo Moretti-Ferreira, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. (en) La sindrome di MOMO è una malattia genetica rarissima che appartiene alle sindromi con crescita eccessiva ed è stata diagnosticata in soli sei casi in tutto il mondo, e si verifica in 1 caso su 100 milioni di nascite. Il nome è un acronimo dei quattro aspetti principali della malattia: Macrosomia (eccessivo peso alla nascita), Obesità, Macrocefalia (eccessiva dimensione della testa) e le anomalie Oculari. Non si sa se si tratta di una condizione che limita la vita. La sindrome MOMO fu diagnosticata nel 1993 dal professor Célia Priszkulnik Koiffmann, un ricercatore brasiliano negli studi genetici e clinici di disturbi dello sviluppo neurologico. (it)
foaf:name	MOMO syndrome (en)
name	MOMO syndrome (en)
dcterms:subject	Rare syndromes Genetic disorders with OMIM but no gene Medical conditions related to obesity Autosomal dominant disorders
Wikipage page ID	1964812 (xsd:integer)
Wikipage revision ID	1090110920 (xsd:integer)
Link from a Wikipage to another Wikipage	Brazil Pathologic nystagmus Retina Genetic disorder England Coloboma Macrocephaly Documentary film Acronym King Momo Pun Rare syndromes Italy Genetic disorders with OMIM but no gene Medical conditions related to obesity Autosomal dominant disorders São Paulo Autosome Human eye Icklesham Obesity Stone (weight) School Discovery Fit & Health Momus Macrosomia Five (TV) dbr:Diorkeblin_Hernández_Durruthy
Link from a Wikipage to an external page	http://www.cubaenmiami.com/el-ciren-le-niega-la-atencion-medica-a-nino-cubano-con-sindrome-de-momo/ https://primaveradigital.org/cubaprimaveradigital/diorkeblin-nino-cubano-con-sindrome-de-momo/ https://web.archive.org/web/20101125080443/http:/www.mymultiplesclerosis.co.uk/misc/archiethompson.html
sameAs	MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome MOMO syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description

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