Eiken syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Eiken syndrome | |
| fr | Syndrome d'Eiken | |
| de | Eiken-Syndrom | |
| es | Síndrome de Eiken | |
| it | Sindrome di Eiken | |
| nl | Syndroom van Eiken | |
| pt | Síndrome Eiken | |
| pl | Zespół Eikena | |
| cs | Eikenův syndrom | |
| uk | Синдром Ейкена | |
| zh | Eiken综合征 | |
| tr | Eiken sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600002 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | FB83.0Y | NTBT | index | validated |
| MONDO | 0010803 | E | validated | |
| MeSH | C564010 | E | validated | |
| UMLS | C1838779 | 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:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93447Primary bone dysplasia with defective bone mineralization
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 |
|---|---|---|---|---|---|---|---|---|
| PTH1R | Disease-causing germline mutation(s) in | Assessed | HGNC:9608 | ENSG00000160801 | 168468 | 3p21.31 | parathyroid hormone 1 receptor | 15525660[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 15525660[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15525660[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
23 annotations · validated 2016-12-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0006376 | Limited elbow flexion | |
| Frequent (79-30%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0001211 | Abnormal fingertip morphology | |
| HP:0100671 | Abnormal trabecular bone morphology | |
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0010305 | Absence of the sacrum | |
| HP:0001769 | Broad foot | |
| HP:0001169 | Broad palm | |
| HP:0002967 | Cubitus valgus | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0008808 | High iliac wings | |
| HP:0008800 | Limited hip movement | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0009803 | Short phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0002753 | Thin bony cortex | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 6734674[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79106
- This record as JSON: /data/d/79106.json