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Genitopatellar syndrome

Synonym(s) Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Childhood
  • Q87.8
MeSH -
MedDRA -


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.

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Detailed information

Clinical genetics review
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