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.
Upper limb defects, including abnormal or incomplete development of the fingers and forearm
Underdevelopment of the mammary and apocrine glands
Symptomatic treatment,Pain killers