About: Mandibulofacial dysostosis-microcephaly syndrome

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Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy disease
rdfs:label	Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom (de) Mandibulofacial dysostosis-microcephaly syndrome (en)
rdfs:comment	Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms. (en) Das Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom (MFDM) ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Kleinwuchs, Intelligenzminderung, mandibulo-faziale Dysostose, Mikrozephalie und Gaumenspalte. Synonyme sind: englisch Mandibulofacial Dysostosis, Guion-Almeida Type; Mfdga; Mandibulofacial Dysostosis With Microcephaly; Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate (de)
name	Mandibulofacial dysostosis-microcephaly syndrome (en)
foaf:depiction
dcterms:subject	Neurogenetic disorders Autosomal recessive disorders Rare diseases
Wikipage page ID	71319073 (xsd:integer)
Wikipage revision ID	1108880496 (xsd:integer)
Link from a Wikipage to another Wikipage	Brasil District Dentistry Neurogenetic disorders Respiratory arrest Dysmorphic feature Ear canal Semicircular canals Genetic disorder Tracheoesophageal fistula Cleft palate Genetic mutation Autosomal recessive disorders Choanal atresia Deletion (genetics) Auditory ossicles Speech Medical genetics Deafness Language delay Esophageal atresia Rare diseases Intubation EFTUD2 Cochlear implant Missense mutation Trigonocephaly Idiot Microcephaly Micrognathia Short stature Mandibulofacial dysostosis Splice site mutation Intellectual disabilities Premature death Tracheostomy Cheekbone Developmental delays Preauricular tags Spliceosomes dbr:Malar_hypoplasia dbr:Midface dbr:Oromaxillofacial_surgery dbr:Zygomatic_arc
sameAs	Mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome
specialty	Medical genetics
dbp:wikiPageUsesTemplate	dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
deaths	- (en)
causes	Genetic mutation
frequency	rare, about 100 cases have been reported (en)
synonyms	Mandibulofacial dysostosis, Guion-Almeida type, MFDM (en)
has abstract	Das Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom (MFDM) ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Kleinwuchs, Intelligenzminderung, mandibulo-faziale Dysostose, Mikrozephalie und Gaumenspalte. Synonyme sind: englisch Mandibulofacial Dysostosis, Guion-Almeida Type; Mfdga; Mandibulofacial Dysostosis With Microcephaly; Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Die Namensbezeichnung bezieht sich auf den Erstautor der Erstbeschreibung aus dem Jahre 2000 durch die brasilianische Humangenetikerin Maria Leine Guion-Almeida und Mitarbeiter. (de) Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms. (en)
differential	Isolated microcephaly (en)
prevention	none (en)
prognosis	Medium with treatment, poor without it (en)
prov:wasDerivedFrom	wikipedia-en:Mandibulofacial_dysostosis-microcephaly_syndrome?oldid=1108880496&ns=0
page length (characters) of wiki page	9926 (xsd:nonNegativeInteger)
alias	(en) Mandibulofacial dysostosis, Guion-Almeida type, MFDM (abbr.) (en)
foaf:isPrimaryTopicOf	wikipedia-en:Mandibulofacial_dysostosis-microcephaly_syndrome
is foaf:primaryTopic of	wikipedia-en:Mandibulofacial_dysostosis-microcephaly_syndrome

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