ORPHA:69087
Naegeli-Franceschetti-Jadassohn syndrome
Synonyms: NFJ syndrome · Naegeli syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ectodermal dysplasia characterized by adermatoglyphia (absence of fingerprints), reticular cutaneous hyperpigmentation, hypohidrosis, nail dystrophy, tooth enamel defects, and moderate hyperkeratosis of the palms and soles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Naegeli-Franceschetti-Jadassohn syndrome | NFJ syndrome · Naegeli syndrome |
| fr | Syndrome de Naegeli-Franceschetti-Jadassohn | Syndrome NFJ · Syndrome de Naegeli |
| de | Naegeli-Franceschetti-Jadassohn-Syndrom | NFJ-Syndrom · Naegeli-Syndrom |
| es | Síndrome de Naegeli-Franceschetti-Jadassohn | Síndrome de NFJ · Síndrome de Naegeli |
| it | Sindrome di Naegeli-Franceschetti-Jadassohn | Sindrome NFJ · Sindrome di Naegeli |
| nl | Syndroom van Naegeli-Franceschetti-Jadassohn | NFJ-syndroom · Syndroom van Naegeli |
| pt | Síndrome de Naegeli-Franceschetti-Jadassohn | Síndrome NFJ · Síndrome de Naegeli |
| pl | Zespół Naegeliego, Franceschettiego i Jadassohna | Zespół Naegeliego · Zespół NFJ |
| cs | Naegeliho-Franceschettiho-Jadassohnův syndrom | NFJ syndrom · Naegeliho syndrom · Naegeli-Franceschetti-Jadassohnův syndrom |
| uk | Синдром Негелі-Франческетті-Джадассона | Синдром Негелі · Синдром NFJ |
| zh | Naegeli-Franceschetti-Jadassohn综合征 | Naegeli综合征 |
| tr | Naegeli-Franceschetti-Jadassohn sendromu | NFJ sendromu · Naegeli sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161000 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008059 | E | validated | |
| MeSH | C538331 | E | validated | |
| UMLS | C0343111 | E | validated | |
| GARD | 3912 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT14 | Disease-causing germline mutation(s) in | Assessed | HGNC:6416 | ENSG00000186847 | 148066 | 17q21.2 | keratin 14 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.035 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2021-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007455 | Adermatoglyphia | |
| HP:0007427 | Reticulated skin pigmentation | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0007500 | Decreased number of sweat glands | |
| HP:0000958 | Dry skin | |
| HP:0001808 | Fragile nails | |
| HP:0002046 | Heat intolerance | |
| HP:0000966 | Hypohidrosis | |
| HP:0031282 | Malalignment of the great toenail | |
| HP:0008404 | Nail dystrophy | |
| HP:0008392 | Subungual hyperkeratosis | |
| Occasional (29-5%) | ||
| HP:0031045 | Acral blistering | |
| HP:0000970 | Anhidrosis | |
| HP:0000670 | Carious teeth | |
| HP:0001810 | Dystrophic toenail | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0007599 | Generalized reticulate brown pigmentation | |
| HP:0005586 | Hyperpigmentation in sun-exposed areas | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001220 | Interphalangeal joint contracture of finger | |
| HP:0001056 | Milia | |
| HP:0001806 | Onycholysis | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0006480 | Premature loss of teeth | |
| HP:0007530 | Punctate palmoplantar hyperkeratosis | |
| HP:0011069 | Supernumerary tooth | |
| HP:0006253 | Swelling of proximal interphalangeal joints | |
| HP:0006286 | Yellow-brown discoloration of the teeth | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24261749[PMID]_31148864[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69087
- This record as JSON: /data/d/69087.json