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holoprosencephaly-postaxial polydactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly-postaxial polydactyly syndrome

MONDO:0009921

Also known as:pseudo-trisomy 13 syndromePSEUDOTRISOMY 13 syndromeYoung-Maders syndrome

Overview

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Cleft upper lip; and sometimes findings: Cyclopia. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, Microcephaly, Median cleft palate
Arms and legs

Diagnosis

Biomarker and diagnostic research for holoprosencephaly-postaxial polydactyly syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 holoprosencephaly-postaxial polydactyly syndrome.

300 publications have been identified in PubMed for holoprosencephaly-postaxial polydactyly syndrome. Kisho has analyzed 160 by research type. Research spans Case Report / Case Series (53%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	85	53%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:264480

Orphanet

European rare disease database

Orphanet:2166

GARD

Genetic and Rare Diseases Info Center

GARD:344

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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holoprosencephaly-postaxial polydactyly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

holoprosencephaly-postaxial polydactyly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications