Möbius & Congenital facial syndromes

Autosomal DominantDe NovoVariableAutosomal RecessiveNerve AnatomyOMIM 157900

nanatomy/vii.htm#Möbius & Congenital facial syndromes

Overview

From WUSTL Neuromuscular

Möbius syndrome: General Features 4 General Nosology: Moebius syndrome; Brainstem dysgenesis syndromes Anatomy: Rhombencephalic maldevelopment Definition: Congenital, nonprogressive facial weakness with limited abduction of one or both eyes Clinical Onset: Congenital Facial paresis Unilateral or Bilateral Upper > Lower Congenital facial paresis: Types Möbius syndrome 1 (MBS1): 13q12 Möbius syndrome : REV3L ; 6q21; Dominant, de novo Mutations: Missense, Splice site, Stop; Heterozygous Möbius syndrome : PLXND1 ; 3q22.1; Dominant, de novo Mutations: Missense (N1895K; R1485P); Heterozygous Heredit

OMIM Entries

OMIM #157900 OMIM #602776 OMIM #604282 OMIM #601471 OMIM #137295 OMIM #614038 OMIM #614172 OMIM #601626 OMIM #614286 OMIM #131320 OMIM #604185 OMIM #614744 OMIM #142968 OMIM #617732 OMIM #615103

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.