ORPHA:69085
Limb-mammary syndrome
Synonyms: LMS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Limb-mammary syndrome | LMS |
| fr | Syndrome limb-mammary | SLM · Syndrome d'anomalies des membres-anomalies mammaires |
| de | Limb-Mammary-Syndrom | = en |
| es | Síndrome de extremidades-mamario | = en |
| it | Sindrome da anomalie mammarie e degli arti | = en |
| nl | Ledemaat-borstsyndroom | = en |
| pt | Síndrome membros-mama | = en |
| pl | Zespół kończynowo-sutkowy | = en |
| cs | Syndrom zahrnující končetinové anomálie a mamární hypoplázii | = en |
| uk | Синдром аномалії кінцівок-грудної залози | = en |
| zh | 四肢-乳房综合征 | = en |
| tr | Ekstremite-memeli sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603543 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0011334 | E | validated | |
| MeSH | C535903 | E | validated | |
| UMLS | C1863753 | E | validated | |
| GARD | 10051 | 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 (3):
- ORPHA:180173Deficient breast volume or number
rare gynecological and obstetric diseases - ORPHA:98609EEC syndrome and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP63 | Disease-causing germline mutation(s) in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 11462173[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | Pr MANOUVRIER-HANU Sylvie[EXPERT]_26075610[PMID]_9973291[PMID]_20410354[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26075610[PMID]_9973291[PMID]_20410354[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.
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HPO phenotypes
32 annotations · validated 2019-01-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001092 | Absent lacrimal punctum | |
| HP:0002561 | Absent nipple | |
| HP:0012814 | Bilateral breast hypoplasia | |
| HP:0100783 | Breast aplasia | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0000564 | Lacrimal duct atresia | |
| Occasional (29-5%) | ||
| HP:0011939 | 3-4 finger cutaneous syndactyly | |
| HP:0000193 | Bifid uvula | |
| HP:0000498 | Blepharitis | |
| HP:0007717 | Chronic irritative conjunctivitis | |
| HP:0410005 | Cleft hard palate | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000958 | Dry skin | |
| HP:0000668 | Hypodontia | |
| HP:0000966 | Hypohidrosis | |
| HP:0002164 | Nail dysplasia | |
| HP:0012165 | Oligodactyly | |
| HP:0011819 | Submucous cleft soft palate | |
| HP:0001159 | Syndactyly | |
| HP:0001770 | Toe syndactyly | |
| Very rare (<4-1%) | ||
| HP:0001596 | Alopecia | |
| HP:0010463 | Aplasia of the ovary | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0001480 | Freckling | |
| HP:0000272 | Malar flattening | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000411 | Protruding ear | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0045075 | Sparse eyebrow | |
Annotation source: 2199012[PMID]_26075610[PMID]_20556892[PMID]_18627043[PMID]_9973291[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69085
- This record as JSON: /data/d/69085.json