Dermochondrocorneal dystrophy
Synonyms: François syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermochondrocorneal dystrophy | François syndrome |
| fr | Dystrophie dermo-chondro-cornéenne | Syndrome de François |
| de | Dystrophie, dermo-chondro-corneale | Francois-Syndrom |
| es | Distrofia dermo-condro-coneal | Síndrome de François |
| it | Distrofia dermo-condro-corneale | Sindrome di François |
| nl | Dermochondrocorneale dystrofie | Syndroom van Francois |
| pt | Distrofia dermocondro-corneana | Síndrome François |
| pl | Dystrofia skórno-chrzęstno-rogówkowa | Zespół Françoisa |
| cs | Dermochondrokorneální dystrofie | Françoisův syndrom |
| uk | Дермохондрокорнеальна дистрофія | Синдром Франсуа |
| zh | 皮肤软骨角膜营养不良 | François综合征 |
| tr | Dermokondrokorneal distrofi | François sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221800 | E | validated | |
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | EC4Y | NTBT | index | validated |
| MONDO | 0009094 | E | validated | |
| MeSH | C535375 | E | validated | |
| UMLS | C0432288 | E | validated | |
| GARD | 1815 | 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 (3):
- ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26440764[PMID] |
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 26440764[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
7 annotations · validated 2017-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001131 | Corneal dystrophy | |
| HP:0001176 | Large hands | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000991 | Xanthomatosis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20574610(PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79149
- This record as JSON: /data/d/79149.json