Ulnar–mammary syndrome
| Ulnar–mammary syndrome | |
|---|---|
| Other names | Schinzel syndrome |
 | |
| This condition is inherited in an autosomal dominant manner. | |
| Specialty | Dermatology |
Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous (or skin) condition characterized by nipple and breast hypoplasia (or aplasia), i.e. underdevelopment.[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
[edit]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
[edit]References
[edit]- ^ Rapini RP, Bolognia JL, Jorizzo JL (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". rarediseases.info.nih.gov. Retrieved 2018-04-13.
- ^ Loyal J, Laub DR (2014). "Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment". ePlasty. 14: ic35. PMC 4183216. PMID 25328580.
- ^ Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R (December 2006). "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. 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