raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:180176

Familial juvenile hypertrophy of the breast

Synonyms: Familial juvenile gigantomastia · Virginal breast hypertrophy

Type
Morphological anomaly
Group
Disorder
Inheritance
Not applicable
Status
active

A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFamilial juvenile hypertrophy of the breastFamilial juvenile gigantomastia · Virginal breast hypertrophy
frHypertrophie mammaire juvénile familialeGigantomastie juvénile familiale · Hypertrophie mammaire virginale
deFamiliäre juvenile Hypertrophie der BrustGigantomastie, juvenile, familiäre Form
esHipertrofia juvenil familiar de la mamaGigantomastia
itIpertrofia mammaria giovanile familiareIpertrofia mammaria giovanile · Ipertrofia mammaria virginale
nlFamiliale juveniele hypertrofie van borstFamiliale juveniele gigantomastie · Virginale borsthypertrofie
ptGigantomastia
plRodzinny młodzieńczy przerost piersiDziewicza hipertrofia piersi · Rodzinna młodzieńcza gigantomastia
csFamiliární juvenilní hypertrofie prsuFamiliární juvenilní gigantomastie · Panenská hypertrofie prsu
ukСімейна ювенільна гіпертрофія молочної залозиСімейна ювенільна гігантомастія · Гіпертрофія молочної залози у дівчат
zh家族性青少年乳腺肥大家族性青少年巨乳房
trMemenin ailesel jüvenil hipertrofisiVirjinal meme hipertrofisi · Ailesel jüvenil jigantomasti

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM113670Evalidated
ICD-10N62NTBTattributedvalidated
ICD-11GB22NTBTattributedvalidated
MONDO0007237Evalidated
UMLSC4749285Evalidated

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

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card