Isolated congenital onychodysplasia
Synonyms: COIF · COIF syndrome · Congenital onychodysplasia of the index fingers · Iso-Kikuchi syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital onychodysplasia | COIF · COIF syndrome · Congenital onychodysplasia of the index fingers · Iso-Kikuchi syndrome |
| fr | Onychodysplasie congénitale isolée | Onychodysplasie congénitale des index · Syndrome d'Iso-Kikuchi |
| de | Onychodysplasie, kongenitale isolierte | COIF · COIF-Syndrom · Iso-Kikuchi-Syndrom · Onychodysplasie des Zeigefingers, kongenitale · Onychodysplasie des Zeigefingers, kongenitale (COIF) |
| es | Onicodisplasia congénita aislada | COIF · Onicodisplasia congénita de los dedos índices · Síndrome COIF · Síndrome de Iso-Kikuchi |
| it | Onicodisplasia isolata congenita | Onicodisplasia congenita del dito indice · Sindrome COIF · Sindrome di Iso-Kikuchi |
| nl | Geïsoleerde congenitale onychodysplasie | COIF · COIF-syndroom · Congenitale onychodysplasie van de wijsvingers · Syndroom van Iso-Kikuchi |
| pt | Onicodisplasia congénita | Onicodisplasia congénita dos dedos indicadores · Síndrome COIF · Síndrome de Iso-Kikuchi |
| pl | Wrodzona dysplazja paznokci | COIF · Wrodzona dysplazja paznokci palców wskazująych · Zespół COIF · Zespół Iso i Kikuchi |
| cs | Vrozená onychodysplázie | COIF · COIF syndrom · Isov-Kukuchiho syndrom · Vrozená onychodysplázie postihující ukazováčky |
| uk | Ізольована вроджена оніходисплазія | COIF · Синдром COIF · Вроджена оніходисплазія вказівних пальців · Синдром Ізо-Кікучі |
| zh | 孤立型先天性甲发育不良 | 先天性食指指甲发育异常 |
| tr | İzole doğumsal onikodisplazi | COIF · COIF sendromu · Iso-Kikuchi sendromu · İşaret parmaklarının Doğumsal onikodisplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605779 | E | validated | |
| ICD-10 | Q84.6 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | index | validated |
| MONDO | 0011595 | E | validated | |
| UMLS | C1274658 | E | validated | |
| GARD | 9761 | 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:79369Isolated nail anomaly
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_26509026[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
22 annotations · validated 2021-01-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030805 | Absent lunula | |
| HP:0010793 | Bifid nail | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001816 | Thin nail | |
| HP:0100797 | Toenail dysplasia | |
| Frequent (79-30%) | ||
| HP:0005918 | Abnormal finger phalanx morphology | |
| HP:0001598 | Concave nail | |
| HP:0031282 | Malalignment of the great toenail | |
| HP:0011313 | Narrow nail | |
| HP:0040036 | Onychogryposis of fingernail | |
| HP:0008401 | Onychogryposis of toenails | |
| HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger | |
| HP:0030803 | Platonychia | |
| HP:0001792 | Small nail | |
| Occasional (29-5%) | ||
| HP:0001798 | Anonychia | |
| HP:0012710 | Ingrown nail | |
| HP:0012203 | Onychomycosis | |
| Very rare (<4-1%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001385 | Hip dysplasia | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0012296 | Slender distal phalanx of finger | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31685224[PMID]_26131880[PMID]_11030770[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79144
- This record as JSON: /data/d/79144.json