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Start free with EleplanIsolated congenital breast hypoplasia/aplasia
ORPHA:180188Morphological anomaly
Also called Isolated congenital amastia
What it is
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.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Morphological anomaly
Gene
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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