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Breast aplasia

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Absent breast; Congenital absence of breast; Mammary gland aplasia
SNOMED CT: Congenital absence of breast (111324004)
HPO: HP:0100783


Failure to develop and congenital absence of the breast. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBreast aplasia

Conditions with this feature

Incontinentia pigmenti syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males. Characteristic skin lesions evolve through four stages: I. Blistering (birth to age ~4 months). II. Wart-like rash (for several months). III. Swirling macular hyperpigmentation (age ~6 months into adulthood). IV. Linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including seizures, intellectual disability, and developmental delays are occasionally seen.
Scalp-ear-nipple syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Estrogen resistance syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes (Bernard et al., 2017). Some patients exhibit continued growth into adulthood (Smith et al., 1994).
Chromosome 10q23 deletion syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011).
Meier-Gorlin syndrome 7
MedGen UID:
Concept ID:
Disease or Syndrome
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.

Professional guidelines


Cheuiche AV, da Silveira LG, de Paula LCP, Lucena IRS, Silveiro SP
Eur J Pediatr 2021 Oct;180(10):3073-3087. Epub 2021 Mar 21 doi: 10.1007/s00431-021-04022-1. PMID: 33745030
Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170
Uzun S, Kozumplik O, Jakovljević M, Sedić B
Psychiatr Danub 2010 Mar;22(1):90-3. PMID: 20305598

Recent clinical studies


Ramspacher J, Carmignac V, Vabres P, Mazereeuw-Hautier J
Acta Derm Venereol 2022 Oct 31;102:adv00806. doi: 10.2340/actadv.v102.1141. PMID: 35971836Free PMC Article
Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS
Clin Dysmorphol 2021 Oct 1;30(4):167-172. doi: 10.1097/MCD.0000000000000387. PMID: 34456244


Parodi PC, De Biasio F, Guarneri GF, Rampino Cordaro E, Panizzo N, Riberti C
Microsurgery 2005;25(6):473-6. doi: 10.1002/micr.20151. PMID: 16134097

Clinical prediction guides

van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB
Eur J Hum Genet 2011 Apr;19(4):400-8. Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.211. PMID: 21248748Free PMC Article
Parodi PC, De Biasio F, Guarneri GF, Rampino Cordaro E, Panizzo N, Riberti C
Microsurgery 2005;25(6):473-6. doi: 10.1002/micr.20151. PMID: 16134097

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