Familial juvenile hypertrophy of the breast

General Information (adopted from Orphanet):

Synonyms, Signs: GIGANTOMASTIA, JUVENILE
JHB
Virginal breast hypertrophy
Familial juvenile gigantomastia
Number of Symptoms 3
OrphanetNr: 180176
OMIM Id: 113670
ICD-10: N62
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Excess breast volume or number
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0000765) Abnormality of the thorax 64 / 7739
2
(OMIM) Unilateral giant breast 1 / 7739
3
(HPO:0001470) Sex-limited autosomal dominant 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010).

...

Clinical Description OMIM Badejo (1984) observed unilateral giant breast in 4 of 7 female children from 2 unrelated families in Nigeria. Males were unaffected. All 4 affected females noted the development around age 8 years, which resulted in great social embarrassment ...