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Unilateral breast hypoplasia

MedGen UID:
Concept ID:
Synonym: One underdeveloped breast
HPO: HP:0012813


Underdevelopment of the breast on one side only. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral breast hypoplasia

Conditions with this feature

Craniofrontonasal syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).
Becker nevus syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Becker nevus (BN) is a cutaneous hamartoma affecting approximately 1 in 200 individuals that appears in childhood as a unilateral tan patch, and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles (summary by Cai et al., 2017). Becker nevus syndrome (BNS) is a phenotype characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects (Happle and Koopman, 1997).
Intellectual disability, X-linked 99, syndromic, female-restricted
MedGen UID:
Concept ID:
Disease or Syndrome
Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

Professional guidelines


Abdolell M, Tsuruda KM, Lightfoot CB, Payne JI, Caines JS, Iles SE
Br J Radiol 2016;89(1059):20150522. Epub 2015 Dec 21 doi: 10.1259/bjr.20150522. PMID: 26689094Free PMC Article
Behrendt CE, Tumyan L, Gonser L, Shaw SL, Vora L, Paz IB, Ellenhorn JD, Yim JH
Breast 2014 Aug;23(4):341-5. Epub 2014 Feb 14 doi: 10.1016/j.breast.2014.01.005. PMID: 24530008Free PMC Article

Recent clinical studies


Chang LW, Kazlouskaya V, Georgesen C, Matsumoto M, Ho J, Jedrych J, Karunamurthy A, Picarsic J, Woerner A, Gehris R
J Drugs Dermatol 2022 Apr 1;21(4):425-426. doi: 10.36849/JDD.5579. PMID: 35389596
Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen MM Jr
Am J Med Genet 1996 Jan 11;61(2):147-51. doi: 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U. PMID: 8669441

Clinical prediction guides

Goddard DS, Rogers M, Frieden IJ, Krol AL, White CR Jr, Jayaraman AG, Robinson-Bostom L, Bruckner AL, Ruben BS
J Am Acad Dermatol 2009 Dec;61(6):1060.e1-14. Epub 2009 Aug 6 doi: 10.1016/j.jaad.2009.03.036. PMID: 19664847
Tsoutsos D, Stratigos A, Gravvanis A, Zapandioti P, Kakagia D
J Burn Care Res 2007 May-Jun;28(3):530-2. doi: 10.1097/BCR.0B013E318053DAC5. PMID: 17438499

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