Isolated congenital breast hypoplasia/aplasia

Orpha code: 180188OMIM code: 616001

Definition

A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.

Disease data
Classification

Morphological anomaly

Synonyms
Isolated congenital amastia
Isolated congenital amastia
ORPHA code
180188
OMIM code
616001
ICD10 code
Q83.0
ICD11 code
LB60

No additional description.

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