raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2456

Familial supernumerary nipples

Synonyms: Isolated polythelia

Type
Morphological anomaly
Group
Disorder
Age of onset
Infancy, Neonatal
Status
active

Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFamilial supernumerary nipplesIsolated polythelia
frMamelon surnuméraire héréditairePolythélie isolée
deMamillen, überzählige, familiäre FormPolythelie, isolierte
esPezones supernumerarios familiaresPolitelia aislada
itCapezzoli soprannumerari familiari
nlFamiliale surnumeraire tepelsGeïsoleerde polythelie
ptMamilos supranumerários familiarPolitelia familiar
plRodzinne dodatkowe gruczoły sutkowePolitelia izolowana
csNadpočetná bradavkaIzolovaná polytelie
ukСімейні надлишкові соскиІзольована політелія
zh家族遗传性多乳头孤立型多乳头畸形
trAilesel süpernümerik meme uçlarıİzole politeli

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM163700Evalidated
ICD-10Q83.3NTBTattributedvalidated
ICD-11LB63NTBTattributedvalidated
MONDO0008101Evalidated
UMLSC4707878Evalidated
GARD2259Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families46 casesWorldwideCase(s)Validated9809822[PMID]_1638072[PMID]_28361071[PMID]_20465693[PMID]_8603338[PMID]_11421419[PMID]_12514363[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidated9809822[PMID]_1638072[PMID]_28361071[PMID]_20465693[PMID]_8603338[PMID]_11421419[PMID]_12514363[PMID]_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.

6

HPO phenotypes

2 annotations · validated 2016-06-01
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0002558Supernumerary nipple
Occasional (29-5%)
HP:0000119Abnormality of the genitourinary system

Run the differential on the 1 obligate / very frequent terms

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Sources for this card