Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
MeSH: C535806ORPHA: 2560
Overview
This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction; see this term) with peripheral axonal neuropathy and hypogonadotropic hypogonadism
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismMovement abnormality of the tongueMask-like faciesStrabismusExternal ophthalmoplegiaAbnormal finger morphologyHypotoniaBilateral talipes equinovarusModerate intellectual disabilityInability to walkPeripheral axonal neuropathyDemyelinating peripheral neuropathyFacial paralysisDecreased corneal reflexAbnormality of jaw muscles
Classification & Codes
MeSH Code
C535806Orphanet Code
ORPHA:2560Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
| MeSH | C535806 |
| Orphanet | ORPHA:2560 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO