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GENATLAS PHENOTYPE
last update : 27-10-2011
Symbol EPSS
Location 2q23.1
Name ear, patella, short stature
Other name(s) Meier-Gorlin syndrome 2
Corresponding gene ORC4
Other symbol(s) MGORS2
Main clinical features
  • microtia, absent patellae, and micrognathia, camptodactyly of the fingers as well as Blount osteochondritis dissecans
  • short stature, poor weight gain, and characteristic facial features; other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modeling of the glenoid fossas with hooked clavicles, and clinodactyly
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    ear
    Type disease
    Remark(s)