Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

brain malformation-congenital heart disease-postaxial polydactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brain malformation-congenital heart disease-postaxial polydactyly syndrome

MONDO:0019153

Also known as:Goossens-Devriendt syndrome

Overview

Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.

Diagnosis

Biomarker and diagnostic research for brain malformation-congenital heart disease-postaxial polydactyly 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 brain malformation-congenital heart disease-postaxial polydactyly syndrome.

101 publications have been identified in PubMed for brain malformation-congenital heart disease-postaxial polydactyly syndrome. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (16%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Research summaries	58	72%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:75389

GARD

Genetic and Rare Diseases Info Center

GARD:18926

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

brain malformation-congenital heart disease-postaxial polydactyly 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