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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
Source: Orphanet
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

Ulnar-mammary syndrome (UMS) 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 hymen
MedGen UID:
57775
Concept ID:
C0152436
Congenital Abnormality
A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.
Bicornuate uterus
MedGen UID:
78599
Concept ID:
C0266387
Congenital Abnormality
The presence of a bicornuate uterus.
Small scrotum
MedGen UID:
141577
Concept ID:
C0455792
Finding
Apparently small scrotum for age.
Shawl scrotum
MedGen UID:
388088
Concept ID:
C1858539
Congenital Abnormality
Superior margin of the scrotum superior to the base of the penis.
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.
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).
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
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.
Short 5th finger
MedGen UID:
334269
Concept ID:
C1842878
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Hypoplasia of the ulna
MedGen UID:
395934
Concept ID:
C1860614
Congenital Abnormality
Underdevelopment of the ulna.
Brachymetatarsus 4
MedGen UID:
396286
Concept ID:
C1862083
Finding
Underdevelopment (hypoplasia) of the fourth toe.
Aplasia of the 5th metacarpal
MedGen UID:
356875
Concept ID:
C1867929
Finding
Absence of the fifth long bone of the hand.
Aplasia of the ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Short 5th toe
MedGen UID:
866760
Concept ID:
C4021111
Anatomical Abnormality
Underdevelopment (hypoplasia) of the fifth toe.
Aplasia of the 4th metacarpal
MedGen UID:
869658
Concept ID:
C4024086
Finding
Absence of the fourth long bone of the hand.
Aplasia of the 3rd metacarpal
MedGen UID:
869660
Concept ID:
C4024088
Finding
Absence of the third long bone of the hand.
Aplasia of the 3rd finger
MedGen UID:
869915
Concept ID:
C4024346
Finding
Absent 3rd finger.
Aplasia of the 4th finger
MedGen UID:
870041
Concept ID:
C4024472
Finding
Absent 4th finger.
Aplasia of the 5th finger
MedGen UID:
870077
Concept ID:
C4024508
Finding
Absent 5th (little) finger.
Deformed radius
MedGen UID:
871003
Concept ID:
C4025467
Anatomical Abnormality
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Anatomical Abnormality
Abnormal narrowing of the anal opening.
Congenital hypertrophic pyloric stenosis
MedGen UID:
196010
Concept ID:
C0700639
Congenital Abnormality
Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
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.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Stiff elbow
MedGen UID:
536893
Concept ID:
C0239272
Sign or Symptom
A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Short clavicles
MedGen UID:
96529
Concept ID:
C0426799
Congenital Abnormality
Reduced length of the clavicles.
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Subglottic stenosis
MedGen UID:
68668
Concept ID:
C0238441
Anatomical Abnormality
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; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; 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.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Axillary apocrine gland hypoplasia
MedGen UID:
356668
Concept ID:
C1867003
Finding
Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
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
The presence of nipples that instead of pointing outward are retracted inwards.
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUlnar-mammary syndrome
Follow this link to review classifications for Ulnar-mammary syndrome in Orphanet.

Professional guidelines

PubMed

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

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

Peng N, Guo M, Jiang T
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Dec 28;47(12):1769-1774. doi: 10.11817/j.issn.1672-7347.2022.220197. PMID: 36748390
Tung ML, Chandra B, Kotlarek J, Melo M, Phillippi E, Justice CM, Musolf A, Boyadijev SA, Romitti PA, Darbro B, El-Shanti H
Genes (Basel) 2022 Sep 14;13(9) doi: 10.3390/genes13091649. PMID: 36140816Free PMC Article
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
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

Wang H, Gao Y, Qin L, Zhang M, Shi W, Feng Z, Guo L, Zhu B, Liao S
Orphanet J Rare Dis 2023 May 7;18(1):107. doi: 10.1186/s13023-023-02705-6. PMID: 37150818Free PMC Article
Tung ML, Chandra B, Kotlarek J, Melo M, Phillippi E, Justice CM, Musolf A, Boyadijev SA, Romitti PA, Darbro B, El-Shanti H
Genes (Basel) 2022 Sep 14;13(9) doi: 10.3390/genes13091649. PMID: 36140816Free PMC Article
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
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

Wang H, Gao Y, Qin L, Zhang M, Shi W, Feng Z, Guo L, Zhu B, Liao S
Orphanet J Rare Dis 2023 May 7;18(1):107. doi: 10.1186/s13023-023-02705-6. PMID: 37150818Free PMC Article
Tung ML, Chandra B, Kotlarek J, Melo M, Phillippi E, Justice CM, Musolf A, Boyadijev SA, Romitti PA, Darbro B, El-Shanti H
Genes (Basel) 2022 Sep 14;13(9) doi: 10.3390/genes13091649. PMID: 36140816Free PMC Article
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
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
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

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