Lower limb malformation-hypospadias syndrome

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Synonyms: Fried-Goldberg-Mundel syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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