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GENATLAS PHENOTYPE
last update : 21-03-2015
Symbol MOPD5
Location 5q14.2
Name microcephalic osteodysplastic primordial dwarfism, type 5
Other name(s) Short stature, microcephaly, and endocrine dysfunction
Corresponding gene XRCC4
Other symbol(s) SSMED
Main clinical features
  • disproportionate-short-stature syndrome
  • postnatal growth retardation, microcephaly was present at birth, becoming more evident postnatally
  • profound global developmental delay with microcephalic dwarfism, with onychodysplasia, facial dysmorphism, and hypotrichosis
  • severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome and possibly tumor predisposition ( PMID: 25742519))
  • osteopenia, strikingly hypoplastic epiphyses most notably in the proximal humerus and femur
  • endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s)
  • after irradiation, XRCC4-mutated cells exhibited impaired survival with hypersensitivity to IR (PMID: 25728776))