Details of Disease

General Information of Disease (ID: DISLYABR)

Disease Name Otofaciocervical syndrome
Synonyms familial oto-facio-cervical dysmorphia; Fara Chlupackova syndrome; Fara-Chlupackova syndrome; OFC syndrome
Definition
A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISUEW2W: Hereditary otorhinolaryngologic disease
DISEGMSH: Mandibulofacial dysostosis
DISLYABR: Otofaciocervical syndrome
Disease Identifiers
MONDO ID
MONDO_0008163
MESH ID
C563481
UMLS CUI
C1833691
MedGen ID
322257
Orphanet ID
2792
SNOMED CT ID
763860004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EYA1 OTHU807A Strong GermlineCausalMutation [1]
EYA4 OTINGR3Z Strong Genetic Variation [2]
PAX1 OT0Y3MIM Strong Genetic Variation [3]
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References

1 Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Ann Hum Genet. 2006 Jan;70(Pt 1):140-4. doi: 10.1111/j.1529-8817.2005.00204.x.
2 Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.Front Genet. 2019 Jul 18;10:650. doi: 10.3389/fgene.2019.00650. eCollection 2019.
3 Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.Am J Med Genet A. 2018 May;176(5):1200-1206. doi: 10.1002/ajmg.a.38659.