Lower limb malformation-hypospadias syndrome
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 September 2023.
Newly diagnosed with
Lower limb malformation-hypospadias syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.