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tetrasomy 12p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetrasomy 12p

MONDO:0011146

Also known as:Isochromosome 12p mosaicismIsochromosome 12p syndromePallister Killian Mosaic Syndrome

Overview

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

GeneticsMultifactorial

OnsetINFANTILE, NEONATAL, ANTENATAL

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 always present findings: Tethered cord, Short nose, Laryngomalacia, and Poor suck and others; and very common findings: Floppy infant. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Inability to walk, Absent speech, Enlarged brain ventricles (ventriculomegaly)

Prognosis

Phenotype severity distribution: 15 always present features, 1 very common feature, 32 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601803

Orphanet

European rare disease database

Orphanet:884

GARD

Genetic and Rare Diseases Info Center

GARD:8421

Questions for Your Care Team

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tetrasomy 12p

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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