Fried's tooth and nail syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fried's tooth and nail syndrome | |
| fr | Syndrome dent et ongle de Fried | |
| de | Zahn-Nagel-Syndrom Typ Fried | |
| es | Síndrome diente-uña de Fried | |
| it | Sindrome dei denti e delle unghie di Fried | |
| nl | Tand- en nagelsyndroom van Fried | |
| pt | Síndrome Dente e unhas de Fried | |
| pl | Zespół zęba i paznokcia Frieda | |
| cs | Friedův syndrom zubů a nehtů | |
| uk | Синдром зубів і нігтів Фріда | |
| zh | Fried牙齿和指甲综合症 | |
| tr | Fried diş ve tırnak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602401 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| MONDO | 0011219 | E | validated | |
| UMLS | C0406715 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; 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 | 12 cases | Worldwide | Case(s) | Validated | 856958[PMID]_9450885[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_856958[PMID]_9450885[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99672
- This record as JSON: /data/d/99672.json