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GENATLAS PHENOTYPE
last update : 07-02-2009
Symbol UMS
Location 12q24.21
Name ulnar mammary syndrome
Other name(s) Schinzel syndrome
Corresponding gene TBX3
Main clinical features
  • hypoplasia or aplasia of upper limbs on the ulnar side
  • abnormal development of mammary glands and nipples, teeth and genitalia, and of apocrine glands in both sexes
    • Genetic determination autosomal dominant
    Prevalence rare
    Function/system disorder limbs
    Type malformation
    Gene product
    Name transcription factor TBX3, with a T-box DNA-binding domain
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     impaired DNA binding or truncated protein lacking the T-box domain
      deletion haploinsufficiency 1 case of a 1.28Mb interstitial deletion encompassing TBX3
    Remark(s)
    Genotype/Phenotype correlations UMS phenotype is associated with mental retardation and characteristic facial changes in a patient with a genomic deletion