Ulnar–mammary syndrome - Misplaced Pages

Human disease Medical condition

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. 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.

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. This gene is located on the long arm of chromosome 15 (15q26.3).

References

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

External links

Classification	D OMIM: 181450 MeSH: C536937 C536937, C536937
External resources	Orphanet: 3138

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	Feingold syndrome Saethre–Chotzen syndrome
1.3	Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	(Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	Hyperimmunoglobulin E syndrome
4.3	Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	Cleidocranial dysostosis

(0) Other transcription factors

0.6	Kabuki syndrome

Ungrouped

Transcription coregulators

Coactivator:	CREBBP Rubinstein–Taybi syndrome
Corepressor:	HR (Atrichia with papular lesions)

Categories:

Genetics

See also

References

External links