About ulnar-mammary syndrome
What is ulnar-mammary syndrome?
Schinzel syndrome, also known as ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands). Abnormalities affecting the hands and/or forearms range from underdevelopment of the bone in the tip of the fifth finger (hypoplastic terminal phalanx) to underdevelopment or complete absence of the bone on the outer aspect of the forearm (ulna).
In addition, certain sweat glands such as those located under the arms may be underdeveloped or absent, resulting in diminished ability or inability to sweat (perspire). In some cases, the breasts (mammary glands) may also be underdeveloped or absent; as a result, affected females exhibit a diminished ability or an inability to produce milk (lactate).
The range and severity of physical abnormalities associated with Schinzel syndrome varies greatly among affected individuals; some cases may be very mild, while others may be more severe.
What are the symptoms for ulnar-mammary syndrome?
Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose.
What are the causes for ulnar-mammary syndrome?
UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant. However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance.
What are the treatments for ulnar-mammary syndrome?
Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present.
What are the risk factors for ulnar-mammary syndrome?
Ulnar-mammary syndrome (UMS), also known as Schinzel syndrome, is a rare genetic syndrome that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family.
1. The main features of UMS include upper limb defects, including abnormal or incomplete development of the fingers and forearm, underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities.
2. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin and a broad nose.
3. Schinzel syndrome is inherited as an autosomal dominant genetic trait. It occurs as a result of an abnormality in a gene on the long arm of chromosome 12.
4. The gene responsible for Schinzel syndrome is called “TBX3.” The gene (which is a member of the “T-box” transcription factor family) plays a role in the development of the outer aspect of the upper limbs (ulnar or postaxial limb anomalies) during embryonic growth.
5. Schinzel syndrome is a very rare disorder that affects males and females in equal numbers. Between 50 and 75 cases have been reported in the medical literature. Of these, about 33 cases involve individuals within one family (kindred) from Utah. The syndrome has been described in Asians, Africans, and Europeans.
6. Individuals with this syndrome who have few symptoms may never be diagnosed with the disorder; therefore, it may be difficult to determine the true frequency of the syndrome in the general population.
Symptoms
Upper limb defects, including abnormal or incomplete development of the fingers and forearm
Conditions
Underdevelopment of the mammary and apocrine glands
Drugs
Symptomatic treatment,Pain killers