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Facial paresis, hereditary congenital, 2(HCFP2; MBS3, FORMERLY)

MedGen UID:
346971
•Concept ID:
C1858717
•
Disease or Syndrome
Synonyms: MOBIUS SYNDROME 3; MOEBIUS SYNDROME 3
 
Monarch Initiative: MONDO:0011407
OMIM®: 604185

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Facial palsy
MedGen UID:
87660
•Concept ID:
C0376175
•
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.
Sahin Y, Güngör O, Ayaz A, Güngör G, Sahin B, Yaykasli K, Ceylaner S
Brain Dev 2017 Feb;39(2):166-170. Epub 2016 Sep 15 doi: 10.1016/j.braindev.2016.09.002. PMID: 27640920

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