Emery-Nelson syndrome
historical
Synonyms: Hand and foot deformity-flat facies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Emery-Nelson syndrome | Hand and foot deformity-flat facies syndrome |
| fr | Syndrome d'Emery-Nelson | Syndrome de déformation des mains et pieds-face plate |
| de | Emery-Nelson-Syndrom | Hand- und Fußdeformitäten - flaches Gesichtsprofil |
| es | Síndrome de Emery-Nelson | |
| it | Sindrome di Emery-Nelson | Deformazioni delle mani e piedi - faccia piatta |
| nl | Syndroom van Emery-Nelson | Hand- en voetmisvorming - plat gelaat-syndroom |
| pt | Síndrome Emery-Nelson | Deformação dos pés e mãos-face plana |
| pl | Zespół Emery'ego i Nelsona | Deformacja ręki i stopy - płaska twarz |
| cs | Emeryho-Nelsonové syndrom | Syndrom zahrnující deformity ruky a nohy a plochý obličej · Emery-Nelsonové syndrom |
| uk | Синдром Емері-Нельсона | Синдром деформації кистей і стоп та плоского обличчя |
| zh | Emery-Nelson综合征 | 手足畸形-坪相综合征 |
| tr | Emery-Nelson sendromu | El ve ayak deformitesi-düz fasiyes sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 139750 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007696 | E | validated | |
| UMLS | C4751229 | E | validated | |
| GARD | 2593 | 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:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 5501704[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5501704[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0009626 | Contractures of the interphalangeal joint of the thumb | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0000348 | High forehead | |
| HP:0000343 | Long philtrum | |
| HP:0006070 | Metacarpophalangeal joint contracture | |
| Frequent (79-30%) | ||
| HP:0000218 | High palate | |
| HP:0002162 | Low posterior hairline | |
| HP:0001319 | Neonatal hypotonia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1927
- This record as JSON: /data/d/1927.json