About: Otofaciocervical syndrome

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Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy disease
rdfs:label	Oto-fazio-zervikales Syndrom (de) Otofaciocervical syndrome (en)
rdfs:comment	Das Oto-fazio-zervikale Syndrom (von altgriechisch οὖς ous, Genitiv ὠτός ōtós, „Ohr“ sowie lateinisch facies „Gesicht“ und cervix „Hals“) ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Gesichtsdysmorphie, Schallleitungsschwerhörigkeit und Fistelbildungen meist vor dem Ohr. Synonyme sind: Fara-Chlupácková-Syndrom; englisch Otofaciocervical Syndrome 1; OTFCS, OFC; OFC1 Die Namensbezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1967 durch den tschechischen Gesichtschirurgen Miroslav Fara und Mitarbeiterinnen. (de) Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature. (en)
name	Otofaciocervical syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Genetic diseases and disorders Autosomal dominant disorders
Wikipage page ID	70940927 (xsd:integer)
Wikipage revision ID	1118257760 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Dysmorphic feature Genetic mutation Autosomal recessive disorders Clavicle Medical genetics Deafness Genetic diseases and disorders EYA1 Chromosome 20 Chromosome 8 Autosomal dominant disorders Intellectual disabilities PAX1 Preauricular fistula Preauricular pit Winged scapulae
sameAs	Otofaciocervical syndrome Otofaciocervical syndrome Otofaciocervical syndrome Otofaciocervical syndrome
specialty	Medical genetics
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Infobox_medical_condition
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_and_recessive.svg?width=300
deaths	- (en)
causes	Genetic mutation
frequency	Very rare, a total of 24 cases have been reported worldwide. (en)
image size	200 (xsd:integer)
synonyms	Fars Chlupackova syndrome (en)
has abstract	Das Oto-fazio-zervikale Syndrom (von altgriechisch οὖς ous, Genitiv ὠτός ōtós, „Ohr“ sowie lateinisch facies „Gesicht“ und cervix „Hals“) ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Gesichtsdysmorphie, Schallleitungsschwerhörigkeit und Fistelbildungen meist vor dem Ohr. Synonyme sind: Fara-Chlupácková-Syndrom; englisch Otofaciocervical Syndrome 1; OTFCS, OFC; OFC1 Die Namensbezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1967 durch den tschechischen Gesichtschirurgen Miroslav Fara und Mitarbeiterinnen. (de) Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature. (en)
prevention	None (en)
prognosis	Bad, nearing medium (en)
risks	Depends on the type (en)
prov:wasDerivedFrom	wikipedia-en:Otofaciocervical_syndrome?oldid=1118257760&ns=0
page length (characters) of wiki page	8272 (xsd:nonNegativeInteger)
alias	(en) Fars Chlupackova syndrome (en)
foaf:isPrimaryTopicOf	wikipedia-en:Otofaciocervical_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (O) List of OMIM disorder codes
is foaf:primaryTopic of	wikipedia-en:Otofaciocervical_syndrome

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