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 gland
A mammary gland is an exocrine gland in humans and other mammals that produces milk to feed young offspring. Mammals get their name from the Latin word ''mamma'', "breast". The mammary glands are arranged in organs such as the breasts in ...
s (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.
Genetics
It has been associated with
TBX3.
This gene is located on the long arm of
chromosome 12 (12q24.21).
Another gene that has been associated with this condition is
SYNM.
[Zlotina A, Kiselev A, Sergushichev A, Parmon E, Kostareva A (2018) Rare case of ulnar-mammary-like syndrome With left ]ventricular tachycardia
Ventricular tachycardia (V-tach or VT) is a fast heart rate arising from the lower chambers of the heart. Although a few seconds of VT may not result in permanent problems, longer periods are dangerous; and multiple episodes over a short period ...
and lack of TBX3 mutation. Front Genet 9:209 This gene is located on the long arm of
chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 102 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total ...
(15q26.3).
See also
*
Carvajal syndrome
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier agai ...
References
External links
Genodermatoses
Transcription factor deficiencies
Syndromes
Rare syndromes
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