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lower limb deficiency-hypospadias syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lower limb deficiency-hypospadias syndrome

MONDO:0016639

Also known as:Fried-Goldberg-Mundel syndromelower limb malformation-hypospadias syndrome

Overview

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.

Diagnosis

Biomarker and diagnostic research for lower limb deficiency-hypospadias syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lower limb deficiency-hypospadias syndrome.

300 publications have been identified in PubMed for lower limb deficiency-hypospadias syndrome. Kisho has analyzed 90 by research type. Research spans Review / Meta-Analysis (41%), Clinical Trial Publication (23%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Research summaries	37	41%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2487

GARD

Genetic and Rare Diseases Info Center

GARD:18773

Questions for Your Care Team

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lower limb deficiency-hypospadias syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications