Medicine:Ulnar–mammary syndrome
| Ulnar–mammary syndrome | |
|---|---|
| Other names | Schinzel syndrome |
| Specialty | Dermatology |
Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast hypoplasia or aplasia.[1][2] 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.[3][4]
Genetics
It has been associated with TBX3.[5] This gene is located on the long arm of chromosome 12 (12q24.21).[citation needed]
Another gene that has been associated with this condition is SYNM.[6] This gene is located on the long arm of chromosome 15 (15q26.3).[citation needed]
See also
- Carvajal syndrome
- List of cutaneous conditions
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 896, 7. ISBN 978-1-4160-2999-1.
- ↑ Schinzel Syndrome
- ↑ "Walker-Warburg syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/2599/walker-warburg-syndrome.
- ↑ "Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment". ePlasty 14: ic35. 2014. PMID 25328580.
- ↑ "Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene". European Journal of Human Genetics 14 (12): 1274–9. December 2006. doi:10.1038/sj.ejhg.5201696. PMID 16896345.
- ↑ Zlotina A, Kiselev A, Sergushichev A, Parmon E, Kostareva A (2018) Rare case of ulnar-mammary-like syndrome With left ventricular tachycardia and lack of TBX3 mutation. Front Genet 9:209
External links
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