Ulnar mammary syndrome
Ulnar Mammary Syndrome
Ulnar Mammary Syndrome (pronunciation: UHL-nahr MAM-uh-ree SIN-drohm) is a rare genetic disorder that affects the development of certain parts of the body. The syndrome is characterized by abnormalities of the ulna, the longer bone of the forearm, and underdevelopment of the breast and apocrine glands, which are specialized sweat glands that produce pheromones.
Etymology
The term "Ulnar Mammary Syndrome" is derived from the Latin "ulna" meaning elbow, and the Latin "mamma" meaning breast, referring to the primary areas affected by the syndrome.
Symptoms
The symptoms of Ulnar Mammary Syndrome can vary greatly among affected individuals. Common symptoms include:
- Abnormalities of the ulna
- Underdevelopment or absence of the breast and apocrine glands
- Abnormalities of the teeth
- Hypogonadism, a condition characterized by reduced function of the gonads
- Delayed puberty
Causes
Ulnar Mammary Syndrome is caused by mutations in the TBX3 gene. This gene provides instructions for making a protein that is involved in the development of several parts of the body, including the limbs and the mammary glands.
Diagnosis
Diagnosis of Ulnar Mammary Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing to identify mutations in the TBX3 gene.
Treatment
Treatment of Ulnar Mammary Syndrome is symptomatic and supportive. This may include physical therapy, surgical intervention for limb abnormalities, and hormone therapy for hypogonadism and delayed puberty.
See Also
External links
- Medical encyclopedia article on Ulnar mammary syndrome
- Wikipedia's article - Ulnar mammary syndrome
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