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Familial juvenile hypertrophy of the breast(JHB)

MedGen UID:
140798
Concept ID:
C0405471
Disease or Syndrome
Synonyms: GIGANTOMASTIA, JUVENILE; Hypertrophy of the breast, juvenile
SNOMED CT: Pubertal breast hypertrophy (198113009); Diffuse hypertrophy of breast (198113009); Juvenile mammary hypertrophy (198113009); Adolescent macromastia (198113009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007237
OMIM®: 113670
Orphanet: ORPHA180176

Definition

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). A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689). [from OMIM]

Clinical features

From HPO
Abnormal thorax morphology
MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial juvenile hypertrophy of the breast

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