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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Disease definition

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).

ORPHA:96182

  • Synonym(s):
    • UPD(7)mat
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q87.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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