Isolated hereditary congenital facial paralysis

General Information (adopted from Orphanet):

Synonyms, Signs: MOBIUS SYNDROME 2, FORMERLY
MOEBIUS SYNDROME 2, FORMERLY
FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL
MBS2, FORMERLY
HCFP1
Number of Symptoms 5
OrphanetNr: 306527
OMIM Id: 601471
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cranial nerve and nuclear aplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Paralytic facial malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease

Symptom Information: Sort by abundance 

1
(HPO:0010628) Facial palsy 146 / 7739
2
(HPO:0000478) Abnormality of the eye 126 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(HPO:0003680) Nonprogressive disorder 23 / 7739
5
(OMIM) Absent corneal reflex response 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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.

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Clinical Description OMIM Skyberg and Van der Hagen (1965) observed congenital unilateral hereditary facial palsy in 4 generations of a family with 16 probably affected persons. Autosomal dominant inheritance was suggested. The stapedial reflex was absent, suggesting involvement of the motor ...
Molecular genetics OMIM Using RNA in situ hybridization, van der Zwaag et al. (2005) identified 4 genes within the HCFP1 critical region, Klf15 (606465), Ccdc37, Tmcc1, and Podxl2, that were expressed at spatial and temporal positions during embryonic mouse development that ...