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preaxial polydactyly-colobomata-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

preaxial polydactyly-colobomata-intellectual disability syndrome

MONDO:0017377

Also known as:Pfeiffer-Mayer syndromeshort stature intellectual disability type I preaxial polydactyly with colobomatous abnormalitiesshort stature mental retardation type I preaxial polydactyly with colobomatous abnormalities

Overview

Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.

Diagnosis

Biomarker and diagnostic research for preaxial polydactyly-colobomata-intellectual disability 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 preaxial polydactyly-colobomata-intellectual disability syndrome.

106 publications have been identified in PubMed for preaxial polydactyly-colobomata-intellectual disability syndrome. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (8%).

Research Type	Count	% of Total
Research summaries	72	68%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2921

GARD

Genetic and Rare Diseases Info Center

GARD:4304

Questions for Your Care Team

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preaxial polydactyly-colobomata-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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