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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.

ORPHA:2487

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