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hypospadias-intellectual disability, Goldblatt type syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypospadias-intellectual disability, Goldblatt type syndrome

MONDO:0009435

Also known as:Goldblatt-Wallis syndromehypospadias intellectual deficit Goldblatt typehypospadias intellectual disability Goldblatt type

Overview

Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.

Diagnosis

Biomarker and diagnostic research for hypospadias-intellectual disability, Goldblatt type 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 hypospadias-intellectual disability, Goldblatt type syndrome.

146 publications have been identified in PubMed for hypospadias-intellectual disability, Goldblatt type syndrome. Research spans Review / Meta-Analysis (65%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	95	65%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241760

Orphanet

European rare disease database

Orphanet:2261

GARD

Genetic and Rare Diseases Info Center

GARD:2928

Questions for Your Care Team

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hypospadias-intellectual disability, Goldblatt type syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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