Posterior fusion of lumbosacral vertebrae - blepharoptosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Faulk-Epstein-Jones syndrome |
| Number of Symptoms | 13 |
| OrphanetNr: | 2064 |
| OMIM Id: |
192800
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| ICD-10: |
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| UMLs: |
C1860464 |
| MeSH: |
C536344 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0007970) | Congenital ptosis | 7 / 7739 | ||||
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(HPO:0010769) | Pilonidal sinus | Frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0001850) | Abnormality of the tarsal bones | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0005626) | Posterior fusion of lumbosacral vertebrae | 1 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Elevated serum lactic dehydrogenase | 1 / 7739 | ||||
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(OMIM) | Tight heel cords | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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