ORPHA:2560
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- historical
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome | |
| fr | Syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope | Syndrome de Möbius-neuropathie axonale-hypogonadisme hypogonadotrope |
| de | Moebius-Syndrom mit axonale Neuropathier und hypogonadotropen Hypogonadismus | |
| es | Síndrome de Möbius-neuropatía axonal-hipogonadismo hipogonadotrópico | |
| it | Sindrome di Moebius - neuropatia assonale - ipogonadismo ipogonadotropo | |
| nl | Syndroom van Moebius - axonale neuropathie - hypogonadotroop hypogonadisme-syndroom | |
| pt | Síndrome de neuropatia axonal-síndrome Moebius-hipogonadismo hipogonadotrópico | |
| pl | Zespół Möbiusa - neuropatia aksonalna - hipogonadyzm hipogonadotropowy | |
| cs | Syndrom zahrnující Moebiusův syndrom, axonální neuropatii a hypogonadotropní hypogonadismus | |
| uk | Синдром Мебіуса - аксональна нейропатія - синдром гіпогонадотропного гіпогонадизму | |
| zh | Moebius综合征-轴突性神经病-低促性腺激素的性功能减退症综合征 | |
| tr | Moebius sendromu-aksonal nöropati-hipogonadotropik hipogonadizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0016819 | E | validated | |
| UMLS | C2931024 | E | validated | |
| GARD | 3698 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 17401577[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17401577[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
15 annotations · validated 2016-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0045037 | Abnormality of jaw muscles | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0008000 | Decreased corneal reflex | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0007209 | Facial paralysis | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000298 | Mask-like facies | |
| HP:0000182 | Movement abnormality of the tongue | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000486 | Strabismus | |
Annotation source: 204751[PMID]_8905202[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2560
- This record as JSON: /data/d/2560.json