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Start free with EleplanMoebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
ORPHA:2560Malformation syndrome
What it is
A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further descriptions in the literature since 1996.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
15- Abnormality of finger
- Abnormality of jaw muscles
- Bilateral talipes equinovarus
- Decreased corneal reflex
- Demyelinating peripheral neuropathy
- External ophthalmoplegia
- Facial paralysis
- Hypogonadotropic hypogonadism
- Hypotonia
- Inability to walk
- Intellectual disability, moderate
- Mask-like facies
- Movement abnormality of the tongue
- Peripheral axonal neuropathy
- Strabismus
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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