ORPHA:570
Moebius syndrome
Synonyms: Möbius syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moebius syndrome | Möbius syndrome |
| fr | Syndrome de Moebius | Syndrome de Möbius |
| de | Moebius-Syndrom | Möbius-Syndrom |
| es | Síndrome de Moebius | Síndrome de Möbius |
| it | Sindrome di Moebius | Sindrome di Möbius |
| nl | Syndroom van Moebius | Syndroom van Möbius |
| pt | Síndrome Moebius | Diplegia facial congénita · Síndrome Möbius |
| pl | Zespół Moebiusa | Wrodzone porażenie twarzy · Zespół Möbiusa |
| cs | Moebiův syndrom | Vrozená faciální diplegie · Möbiův syndrom |
| uk | Синдром Мебіуса | Синдром Мьобіуса |
| zh | Moebius综合征 | 先天性双侧面瘫 |
| tr | Moebius sendromu | Möbius sendromu · Doğumsal fasiyal dipleji |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157900 | E | validated | |
| ICD-10 | Q87.0 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008006 | E | validated | |
| MeSH | D020331 | E | validated | |
| UMLS | C0221060 | E | validated | |
| GARD | 8549 | E | validated | |
| MedDRA | 10030069 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156224Paralytic facial malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLXND1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9107 | ENSG00000004399 | 604282 | 3q22.1 | plexin D1 | 26068067[PMID] |
| REV3L | Disease-causing germline mutation(s) in | Assessed | HGNC:9968 | ENSG00000009413 | 602776 | 6q21 | REV3 like, DNA directed polymerase zeta catalytic subunit | 26068067[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | 1-9 / 100 000 | 0.3 / 100 000 | Worldwide | Value and class | Validated | 37868706[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.12 / 100 000 | Netherlands | Value and class | Validated | 12913192[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.27 / 100 000 | Italy | Value and class | Validated | 33827605[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.06 / 100 000 | Italy | Value and class | Validated | 33827605[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.
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HPO phenotypes
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0010628 | Facial palsy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000298 | Mask-like facies | |
| HP:0000194 | Open mouth | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0009751 | Aplasia of the pectoralis major muscle | |
| HP:0001156 | Brachydactyly | |
| HP:0007957 | Corneal opacity | |
| HP:0002015 | Dysphagia | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0004050 | Absent hand | |
| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000717 | Autism | |
| HP:0000498 | Blepharitis | |
| HP:0100783 | Breast aplasia | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001522 | Death in infancy | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000691 | Microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0009804 | Tooth agenesis | |
| HP:0000505 | Visual impairment | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/570
- This record as JSON: /data/d/570.json