Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| fr | Syndrome de malformation de Klippel-Feil-myopathie-dysmorphie faciale | |
| de | Klippel-Feil-Anomalie-Myopathie-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de anomalía de Klippel-Feil-miopatía-dismorfia facial | |
| it | Sindrome anomalia di Klippel-Feil-miopatia-dismorfismi facciali | |
| nl | Klippel-Feilanomalie - myopathie - faciale dysmorfie-syndroom | |
| pt | Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial | |
| pl | Zespół anomalii Klippela i Feila, miopatii i dysmorfii twarzy | |
| cs | Syndrom zahrnující Klippelovu-Feilovu anomálii, myopatii a faciální dysmorfismus | Syndrom zahrnující Klippel-Feilovu anomálii, myopatii a faciální dysmorfismus |
| uk | Синдром аномалії Кліппеля-Фейля-міопатії-дисморфізму обличчя | |
| zh | 克-佩氏综合征 | |
| tr | Klippel-Feil anomalisi-miyopati-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616549 | E | validated | |
| ICD-10 | Q76.1 | NTBT | attributed | validated |
| MONDO | 0014689 | E | validated | |
| UMLS | C4225285 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYO18B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18150 | ENSG00000133454 | 607295 | 22q12.1 | myosin XVIIIB | 25748484[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25748484[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25748484[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447974
- This record as JSON: /data/d/447974.json