Genitopatellar syndrome

What is Genitopatellar syndrome?

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

Other condition names

  • Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Inheritance type

Autosomal dominant, Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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