FLOTCH syndrome
Synonyms: Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy
- Status
- active
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FLOTCH syndrome | Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome |
| fr | Syndrome FLOTCH | Syndrome de leuconychie totale-kystes trichilemmaux-dystrophie ciliaire |
| de | FLOTCH-Syndrom | Leukonychia totalis - multiple Talgdrüsenzysten - Nierensteine |
| es | Síndrome FLOTCH | |
| it | Sindrome FLOTCH | Leuconichia totale - cisti sebacee multiple - calcoli renali |
| nl | FLOTCH-syndroom | Leukonychia totalis - trichilemmale cysten - ciliaire dystrofie-syndroom |
| pt | Síndrome FLOTCH | |
| pl | Zespół FLOTCH | Leukonychia całkowita - torbiele włosowe - dystrofia rzęsek |
| cs | FLOTCH syndrom | Syndrom zahrnující leukonychia totalis, trichilemální cysty a ciliární dystrofii |
| uk | Синдром FLOTCH | Синдром тотальної лейконіхії-трихілемних кіст-циліарної дистрофії |
| zh | FLOTCH 综合征 | 全白甲-外毛根鞘囊肿-睫状体营养不良综合征 |
| tr | FLOTCH sendromu | Lökoniki totalis-trikilemmal kistler-siliyer distrofi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q84.4 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | attributed | validated |
| MONDO | 0016083 | E | validated | |
| MeSH | C537065 | E | validated | |
| UMLS | C2931411 | E | validated | |
| GARD | 2346 | 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 (1):
- ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 24816854[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24816854[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000613 | Photophobia | |
| HP:0000653 | Sparse eyelashes | |
| Frequent (79-30%) | ||
| HP:0000498 | Blepharitis | |
| HP:0000787 | Nephrolithiasis | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2045
- This record as JSON: /data/d/2045.json