FLOTCH syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Leukonychia totalis - trichilemmal cysts - ciliary dystrophy |
| Number of Symptoms | 7 |
| OrphanetNr: | 2045 |
| OMIM Id: |
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| ICD-10: |
L60.8 |
| UMLs: |
C2931411 |
| MeSH: |
C537065 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic nail anomaly
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
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(HPO:0000787) | Nephrolithiasis | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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