Anonychia with flexural pigmentation
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anonychia with flexural pigmentation | |
| fr | Syndrome d'anonychie-anomalies de la pigmentation des plis de flexion | |
| de | Anonychie mit umschriebener Pigmentierung | |
| es | Anoniquia con pigmentación de los pliegues de flexión | |
| it | Anonichia con pigmentazione delle regioni flessorie | |
| nl | Anonychie met flexurale pigmentatie | |
| pt | Anoníquia com pigmentação das flexuras | |
| pl | Brak paznokci z pigmentacją w okolicach zgięciowych | |
| cs | Anonychie s flexurální pigmentací | |
| uk | Аноніхія зі згинальною пігментацією | |
| zh | 无甲症伴发弯曲色素沉着症 | |
| tr | Fleksural pigmentasyonu ile seyreden anonişi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106750 | E | validated | |
| ICD-10 | Q84.3 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007131 | E | validated | |
| MeSH | C566278 | E | validated | |
| UMLS | C1862844 | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - 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 | 3 cases | Worldwide | Case(s) | Validated | 1156563[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1156563[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
13 annotations · validated 2017-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004404 | Abnormal nipple morphology | |
| HP:0001595 | Abnormality of the hair | |
| HP:0100872 | Abnormality of the plantar skin of foot | |
| HP:0040211 | Abnormality of the skin of the palm | |
| HP:0002293 | Alopecia of scalp | |
| HP:0001798 | Anonychia | |
| HP:0007471 | Axillary and groin hyperpigmentation and hypopigmentation | |
| HP:0000670 | Carious teeth | |
| HP:0000444 | Convex nasal ridge | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0030503 | Macular telangiectasia | |
Annotation source: 1156563[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69125
- This record as JSON: /data/d/69125.json