Emery-Nelson syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hand and foot deformity - flat facies |
| Number of Symptoms | 22 |
| OrphanetNr: | 1927 |
| OMIM Id: |
139750
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| ICD-10: |
Q87.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with limb malformations as a major feature
-Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000348) | High forehead | Very frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0002162) | Low posterior hairline | Frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0006070) | Metacarpophalangeal joint contracture | 3 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0009626) | Contractures of the interphalangeal joint of the thumb | 2 / 7739 | ||||
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(HPO:0001760) | Abnormality of the foot | 96 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0002208) | Coarse hair | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(MedDRA:10057689) | Acquired claw toe | 4 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Metacarpophalangeal flexion contractures | 1 / 7739 | ||||
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(OMIM) | Nonprogressive deformities of hands | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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