Eiken syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BONE MODELING DEFECT OF HANDS AND FEET |
| Number of Symptoms | 6 |
| OrphanetNr: | 79106 |
| OMIM Id: |
600002
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple epiphyseal dysplasia and pseudoachondroplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Primary bone dysplasia with defective bone mineralization -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0002663) | Delayed epiphyseal ossification | 21 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Abnormal modeling of bones of hands and feet | 1 / 7739 | ||||
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(OMIM) | Severely retarded ossification of epiphyses, pelvis, hands, and feet | 1 / 7739 | ||||
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(OMIM) | No mental retardation | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In a consanguineous Turkish family living in Denmark, Eiken et al. (1984) described 3 brothers with a skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands, and feet. In the hands and feet, the ... |
| Molecular genetics OMIM |
Because of its implication in forms of chondrodysplasia and its role in bone development, Duchatelet et al. (2005) examined the PTHR1 gene as a candidate for Eiken syndrome. They identified a truncation mutation in the C-terminal cytoplasmic tail ... |