Ulnar-mammary Syndrome

Description

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

Clinical Features

Top most frequent phenotypes and symptoms related to Ulnar-mammary Syndrome

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Ventricular septal defect
  • Abnormality of the dentition
  • Hernia
  • Obesity
  • Arrhythmia

And another 87 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Ulnar-mammary Syndrome Is also known as schinzel syndrome, ums, pallister ulnar-mammary syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ulnar-mammary Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TBX3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TBX3
Specificity
100 %
Genes
100 %
Ulnar-mammary syndrome (sequence analysis of TBX3 gene).

By CGC Genetics (Portugal).

TBX3
Specificity
100 %
Genes
100 %
Ulnar-Mammary Syndrome via TBX3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TBX3
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %

You can get up to 24 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STICKLER SYNDROME, TYPE I; STL1 LACTOSE INTOLERANCE, ADULT TYPE HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA FISH-EYE DISEASE; FED