Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 2; Bnah2

Description

Congnital 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 (OMIM ) or Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009).For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.

Clinical Features

Top most frequent phenotypes and symptoms related to Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 2; Bnah2

  • Cryptorchidism
  • Anteverted nares
  • Obesity
  • Hyperhidrosis
  • Smooth philtrum
  • Highly arched eyebrow
  • Single transverse palmar crease
  • Broad nasal tip
  • Ectodermal dysplasia
  • Bilateral single transverse palmar creases

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 2; Bnah2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Breasts aplasia (sequence analysis of PTPRF gene).

By CGC Genetics (Portugal).

PTPRF
Specificity
100 %
Genes
100 %
PTPRF.

By Fulgent Genetics Fulgent Genetics (United States).

PTPRF
Specificity
100 %
Genes
100 %
Isolated Breasts and/or Nipples Aplasia or Hypoplasia , Sequencing PTPRF Gene.

By Reference Laboratory Genetics (Spain).

PTPRF
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

We have -4 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WARBURG MICRO SYNDROME 3; WARBM3 THYROID DYSHORMONOGENESIS 4; TDH4 THYROTOXIC PERIODIC PARALYSIS HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more