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Genitopatellar syndrome

Disease definition

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.

ORPHA:85201

Classification level: Disorder
  • 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
  • ICD-10: Q87.8
  • OMIM: 606170
  • UMLS: C1853566
  • MeSH: -
  • GARD: 10994
  • MedDRA: -

Detailed information

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