Ulnar-mammary syndrome

Common Name(s)

Ulnar-mammary syndrome

Ulnar-mammary syndrome (UMS) is a rare genetic disorder that causes abnormalities in the hands, lower arms (forearms), and mammary glands. Symptoms are variable but may include underdevelopment of the bones in the forearm (radius and ulna), abnormal nipples, and obesity, as well as abnormalities in the sweat and mammary glands. Affected individuals may also have delayed puberty and abnormal genitalia may be seen in affected males.

UMS is caused by a change (mutation) in the TBX3 gene. The disorder is inherited in an autosomal dominant way, which means a mutation in only one of the two gene copies a person has is enough to cause the condition. Affected children are usually diagnosed at birth when abnormalities are noticed in the forearm bones (seen on x-rays) and with the nipples (seen on physical exam). Genetic testing is used to confirm the diagnosis.

There is no cure for this condition, but surgery may be needed to repair forearm abnormalities. If your child has been diagnosed with UMS, talk with their doctor about all treatment options. Meeting with a genetic counselor may be helpful to determine who else in the family is at risk for this condition. Support groups can help connect you with other families affected by this condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ulnar-mammary syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ulnar-mammary syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.
 

Author(s): Mary P Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G Bonnemann, Elazar Zelzer, Anne M Moon, Gabrielle Kardon

Journal: Dis Model Mech. 2016 11;9(11):1257-1269.

 

In the vertebrate limb over 40 muscles are arranged in a precise pattern of attachment via muscle connective tissue and tendon to bone and provide an extensive range of motion. How the development of somite-derived muscle is coordinated with the development of lateral plate-derived ...

Last Updated: 31 Dec 1969

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TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.
 

Author(s): Pavan Kumar P, Sarah Franklin, Uchenna Emechebe, Hao Hu, Barry Moore, Chris Lehman, Mark Yandell, Anne M Moon

Journal:

 

TBX3 is a member of the T-box family of transcription factors with critical roles in development, oncogenesis, cell fate, and tissue homeostasis. TBX3 mutations in humans cause complex congenital malformations and Ulnar-mammary syndrome. Previous investigations into TBX3 function ...

Last Updated: 31 Dec 1969

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Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.
 

Author(s): Deborah U Frank, Uchenna Emechebe, Kirk R Thomas, Anne M Moon

Journal:

 

The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome. Efforts to understand how altered TBX3 dosage and function disrupt the development of numerous structures have been hampered by embryonic lethality of mice ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ulnar-mammary syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.