Other syndromes, such as FIG4 associated Yunis Varon syndrome (MIM 216340), acro-der-mato-ungual-lacrimal-tooth (ADULT) syndrome, TP63 associated limb mammary syndrome (MIM 603543), TBX3 associated ulnar syndrome (MIM 181450) and KCTD1 associated scalp-ear-nipple syndrome (MIM 181270) have  also been clinically observed. Ectodermal dysplasia
Ectodermal dysplasia is commonly associated with syndromic amastia. The symptoms of ectodermal dysplasia can be referred to abnormal development of several ectodermal-derived structure such as hair, teeth, nails and sweat glands. Other symptoms may include the inability to sweat, vision or hearing loss, missing or underdeveloped fingers or toes and maldevelopment of breast tissue. Genetic mutations may cause ectodermal dysplasia, and these genes can pass from parents to children. The most common case is the mutation of EDA1 gene which is in X chromosome, and this mutation results in X-linked form hypohidrotic ectodermal dysplasia (XLHED). There is strong association between amastia and XLHED. Over 30% male patients with XLHED have absent nipples. 79% female carriers decrease the ability of breastfeeding. This suggests people with amastia should have a comprehensive skin test to exclude this syndrome. Polands syndrome
Polands syndrome is a genetic disorder associated with abnormal breast development. The prevalence rate of this syndrome is approximately 1 in 20000 to 30000. Both chest wall and upper limb lost normal function, and this syndrome usually occurs unilaterally. Mild and partial forms of Polands syndrome are common, which often been undiagnosed because the clinical feature is only breast asymmetry and a horizontal anterior axillary fold, without severe symptoms.
In order to guide the dissection and make sure the correct location of these tissues, marking of the inframammary crease is required before operation. See also
Amazia
Athelia
Micromastia

References


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