Mammary-digital-nail syndrome
Synonyms: MDN syndrome · Onycho-digito-mammary syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mammary-digital-nail syndrome | MDN syndrome · Onycho-digito-mammary syndrome |
| fr | Syndrome onycho-digito-mammaire | Syndrome MDN |
| de | Mammary-digital-nail-Syndrom | MDN-Syndrom · Mamma-Finger-Nagel-Syndrom · Onycho-digito-mammary-Syndrom |
| es | Síndrome mamario-dígito-ónico | Síndrome MDN · Síndrome ónico-dígito-mamario |
| it | Sindrome mammella-dita-unghie | Sindrome MDN · Sindrome onico-digito-mammaria |
| nl | Borst-vinger-nagel-syndroom | MDN-syndroom · Onychodigitomammair syndroom |
| pt | Síndrome mamário-digital-ungueal | |
| pl | Zespół sutkowo-palcowo-paznokciowy | Zespół MDN · Zespół paznokciowo-palcowo-sutkowy |
| cs | MDN syndrom | = en |
| uk | Синдром молочні залози-пальці-нігті | Синдром MDN · Оніхо-дигіто-мамарний синдром |
| zh | 乳房-手指-指甲综合征 | 指甲-手指-乳房综合征 |
| tr | Meme-dijital-tırnak sendromu | MDN sendromu · Oniko-dijito-meme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613689 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0013368 | E | validated | |
| UMLS | C3150946 | 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 (5):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:180170Excess breast volume or number
rare gynecological and obstetric diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:183731Rare genetic gynecological and obstetrical diseases
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 11 cases | Worldwide | Case(s) | Validated | 20145678[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20145678[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/238744
- This record as JSON: /data/d/238744.json