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Lower limb malformation-hypospadias syndrome

Disease definition

Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.


Classification level: Disorder
  • Synonym(s):
    • Fried-Goldberg-Mundel syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • OMIM: -
  • UMLS: C2930962
  • MeSH: C535640
  • GARD: -
  • MedDRA: -
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