|Other names: Schinzel syndrome|
|Facial appearance demonstrating wide forehead, wide nose|
Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast hypoplasia or aplasia. 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 apocrine and mammary 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 and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose.
Signs and symptoms
The clinical presentation of this condition is the following:
The diagnosis of this condition, Ulnar mammary syndrome is as follows:
- Medical history
- Physical exam
- Laboratory test
- Genetic test
The management of this condition is directed toward the specific symptoms of the individual
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