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Ulnar-mammary syndrome(UMS)

MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Synonyms: PALLISTER ULNAR-MAMMARY SYNDROME; Schinzel syndrome; Ulnar-mammary syndrome of Pallister; UMS
SNOMED CT: Ulnar mammary syndrome (700211007); Ulnar-mammary syndrome (700211007); Schinzel syndrome (700211007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TBX3 (12q24.21)
 
Monarch Initiative: MONDO:0008411
OMIM®: 181450
Orphanet: ORPHA3138

Definition

The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). [from OMIM]

Clinical features

From HPO
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Unusually late sexual maturity.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Pathologic Function
Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
Imperforate hymen
MedGen UID:
57775
Concept ID:
C0152436
Congenital Abnormality
Subglottic stenosis
MedGen UID:
68668
Concept ID:
C0238441
Anatomical Abnormality
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Anatomical Abnormality
Abnormal narrowing of the anal opening.
Breast hypoplasia
MedGen UID:
75594
Concept ID:
C0266013
Congenital Abnormality
Underdevelopment of the breast.
Inversion of nipple
MedGen UID:
82844
Concept ID:
C0269269
Anatomical Abnormality
Short clavicles
MedGen UID:
96529
Concept ID:
C0426799
Congenital Abnormality
Reduced length of the clavicles.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
Arrhythmia
MedGen UID:
167788
Concept ID:
C0855329
Finding
An electrocardiographic finding of a change in cardiac electrical activity.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Shawl scrotum
MedGen UID:
388088
Concept ID:
C1858539
Congenital Abnormality
Superior margin of the scrotum superior to the base of the penis.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Finding
Underdevelopment of the anterior pituitary gland.
Brachymetatarsus 4
MedGen UID:
396286
Concept ID:
C1862083
Finding
Underdevelopment (hypoplasia) of the fourth toe.
Hypoplasia of the ulna
MedGen UID:
350599
Concept ID:
C1862132
Finding
Axillary apocrine gland hypoplasia
MedGen UID:
356668
Concept ID:
C1867003
Finding
Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.
Aplasia of the ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Ectopic posterior pituitary
MedGen UID:
481201
Concept ID:
C3279571
Finding
An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
Short 5th toe
MedGen UID:
866760
Concept ID:
C4021111
Anatomical Abnormality
Underdevelopment (hypoplasia) of the fifth toe.
Deformed radius
MedGen UID:
871003
Concept ID:
C4025467
Anatomical Abnormality
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

Recent clinical studies

Etiology

Washkowitz AJ, Gavrilov S, Begum S, Papaioannou VE
Wiley Interdiscip Rev Syst Biol Med 2012 May-Jun;4(3):273-83. Epub 2012 Feb 14 doi: 10.1002/wsbm.1162. PMID: 22334480Free PMC Article
Frank DU, Carter KL, Thomas KR, Burr RM, Bakker ML, Coetzee WA, Tristani-Firouzi M, Bamshad MJ, Christoffels VM, Moon AM
Proc Natl Acad Sci U S A 2012 Jan 17;109(3):E154-63. Epub 2011 Dec 27 doi: 10.1073/pnas.1115165109. PMID: 22203979Free PMC Article
Teixeira RP, Reid JA, Greensmith A
Cleft Palate Craniofac J 2011 Jul;48(4):473-7. Epub 2010 Feb 22 doi: 10.1597/09-024. PMID: 20180712

Diagnosis

Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N
Clin Dysmorphol 2017 Apr;26(2):61-65. doi: 10.1097/MCD.0000000000000170. PMID: 28145909
Linden H, Williams R, King J, Blair E, Kini U
Am J Med Genet A 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096. PMID: 19938096
Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R
Eur J Hum Genet 2006 Dec;14(12):1274-9. Epub 2006 Aug 9 doi: 10.1038/sj.ejhg.5201696. PMID: 16896345
Meneghini V, Odent S, Platonova N, Egeo A, Merlo GR
Eur J Med Genet 2006 Mar-Apr;49(2):151-8. Epub 2005 Jun 22 doi: 10.1016/j.ejmg.2005.04.021. PMID: 16530712
Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M
Ann Genet 2002 Oct-Dec;45(4):213-7. doi: 10.1016/s0003-3995(02)01144-9. PMID: 12668170

Therapy

Chen D, Qiao Y, Meng H, Pang S, Huang W, Zhang H, Yan B
Gene 2013 Jan 10;512(2):185-8. Epub 2012 Oct 29 doi: 10.1016/j.gene.2012.10.066. PMID: 23116943

Prognosis

Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N
Clin Dysmorphol 2017 Apr;26(2):61-65. doi: 10.1097/MCD.0000000000000170. PMID: 28145909
Teixeira RP, Reid JA, Greensmith A
Cleft Palate Craniofac J 2011 Jul;48(4):473-7. Epub 2010 Feb 22 doi: 10.1597/09-024. PMID: 20180712
Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M
Am J Med Genet A 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900. PMID: 16114047
Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB
Am J Hum Genet 1999 Jun;64(6):1550-62. doi: 10.1086/302417. PMID: 10330342Free PMC Article
Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB
Nat Genet 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311. PMID: 9207801

Clinical prediction guides

Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N
Clin Dysmorphol 2017 Apr;26(2):61-65. doi: 10.1097/MCD.0000000000000170. PMID: 28145909
Frank DU, Emechebe U, Thomas KR, Moon AM
PLoS One 2013;8(7):e67841. Epub 2013 Jul 2 doi: 10.1371/journal.pone.0067841. PMID: 23844108Free PMC Article
Platonova N, Scotti M, Babich P, Bertoli G, Mento E, Meneghini V, Egeo A, Zucchi I, Merlo GR
Cell Tissue Res 2007 May;328(2):301-16. Epub 2007 Jan 30 doi: 10.1007/s00441-006-0364-4. PMID: 17265068
Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R
Eur J Hum Genet 2006 Dec;14(12):1274-9. Epub 2006 Aug 9 doi: 10.1038/sj.ejhg.5201696. PMID: 16896345
Meneghini V, Odent S, Platonova N, Egeo A, Merlo GR
Eur J Med Genet 2006 Mar-Apr;49(2):151-8. Epub 2005 Jun 22 doi: 10.1016/j.ejmg.2005.04.021. PMID: 16530712

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