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Facial paresis, hereditary congenital, 1(HCFP1; MBS2, FORMERLY)

MedGen UID:
371292
•Concept ID:
C1832284
•
Disease or Syndrome
Synonyms: FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL; MBS2 (formerly); MOBIUS SYNDROME 2; Mobius syndrome 2 (formerly); MOEBIUS SYNDROME 2; Moebius syndrome 2 (formerly)
 
Monarch Initiative: MONDO:0024466
OMIM®: 601471

Definition

Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII). HCFP is considered to be distinct from Moebius syndrome (157900), which shares some of the same clinical features. Genetic Heterogeneity of Hereditary Congenital Facial Paresis One locus for HCFP (HCFP1) has been mapped to chromosome 3q. Another locus (HCFP2; 604185) has been mapped to chromosome 10q. HCFP3 (614744) is caused by mutation in the HOXB1 gene (142968) on chromosome 17q21. [from OMIM]

Clinical features

From HPO
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.
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Weakness of orbicularis oculi muscle
MedGen UID:
374115
•Concept ID:
C1839030
•
Finding
Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.
See: Feature record | Search on this feature
Decreased corneal reflex
MedGen UID:
57723
•Concept ID:
C0151572
•
Finding
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
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Recent clinical studies

Therapy

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I, Abe Y, Ono H, Kubota M
Ital J Pediatr 2019 Dec 19;45(1):165. doi: 10.1186/s13052-019-0756-1. PMID: 31856875Free PMC Article
A hereditary neurological disease with facial spasm.
Lundberg PO, Westerberg CE
J Neurol Sci 1969 Jan-Feb;8(1):85-100. doi: 10.1016/0022-510x(69)90043-4. PMID: 4307136

Prognosis

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Hayakawa I, Abe Y, Ono H, Kubota M
Ital J Pediatr 2019 Dec 19;45(1):165. doi: 10.1186/s13052-019-0756-1. PMID: 31856875Free PMC Article
Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.
Mohammad SA, Abdelaziz TT, Gadelhak MI, Afifi HH, Abdel-Salam GMH
Neuroradiology 2018 Oct;60(10):1053-1061. Epub 2018 Aug 3 doi: 10.1007/s00234-018-2063-8. PMID: 30074067

Clinical prediction guides

The neuropathology of hereditary congenital facial palsy vs Möbius syndrome.
Verzijl HT, van der Zwaag B, Lammens M, ten Donkelaar HJ, Padberg GW
Neurology 2005 Feb 22;64(4):649-53. doi: 10.1212/01.WNL.0000151848.65094.55. PMID: 15728286

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