U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

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
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F
Brain 2016 Mar;139(Pt 3):674-91. Epub 2015 Dec 22 doi: 10.1093/brain/awv352. PMID: 26700687Free PMC Article
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article

Diagnosis

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010129. PMID: 38203298Free PMC Article
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
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F
Brain 2016 Mar;139(Pt 3):674-91. Epub 2015 Dec 22 doi: 10.1093/brain/awv352. PMID: 26700687Free PMC Article
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article

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

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...