Moebius syndrome
Findings
No curated finding names Moebius syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.
Definition from the Mondo Disease Ontology (MONDO:0008006), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Very frequent (80% to 99% of cases)
- Facial palsyHPOHP:0010628
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Mask-like faciesHPOHP:0000298
- Very frequent (80% to 99% of cases)
- Open mouthHPOHP:0000194
- Very frequent (80% to 99% of cases)
Show the remaining 29
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLXND1HGNC:9107
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2025
- REV3LHGNC:9968
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
- Limited · G2P · Autosomal dominant · 2017
- LMX1AHGNC:6653
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: Moebius syndrome
- Also called
- MBSMobius syndromeMöbius syndromeMoebius sequenceoromandibular-limb hypogenesis spectrum