Ulnar-mammary syndrome

Ulnar-mammary syndrome: A syndrome that has material basis in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital ...1

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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. ...2

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Symptoms of Ulnar-mammary syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Ulnar-mammary syndrome

Modes of inheritance: Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)3 ...

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Names and Terminology

Other Names: UMS; Schinzel syndrome; Ulnar-mammary syndrome of Pallister ...Source: GARD (NIH)4 ...

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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1866994/ 
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 118/ ulnar-mammary-syndrome

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