Isolated congenital breast hypoplasia/aplasia- MedGen UID:
- 98489
- •Concept ID:
- C0432357
- •
- Congenital Abnormality
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.
Pierpont syndrome- MedGen UID:
- 356049
- •Concept ID:
- C1865644
- •
- Disease or Syndrome
Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Odontotrichomelic syndrome- MedGen UID:
- 443944
- •Concept ID:
- C2930960
- •
- Disease or Syndrome
A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.
Breasts and/or nipples, aplasia or hypoplasia of, 2- MedGen UID:
- 863355
- •Concept ID:
- C4014918
- •
- Congenital Abnormality
Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009).
For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700.