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tetrasomy 9p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetrasomy 9p

MONDO:0018030

Also known as:Chromosome 9, Tetrasomy 9pIsochromosome 9ptetrasomy type 9p

Overview

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).

ResearchLimited published research (7 articles)

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: Hypertelorism, Micrognathia, Abnormal earlobe morphology, and Strabismus and others; and sometimes findings: Recurrent urinary tract infections, Cryptorchidism, Renal dysplasia, and Hydronephrosis and others. 82 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Delayed speech and language development, Global developmental delay, Hydrocephalus

Diagnosis

Biomarker and diagnostic research for tetrasomy 9p has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 common features.

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 tetrasomy 9p.

7 publications have been identified in PubMed for tetrasomy 9p. Research spans Case Report / Case Series (71%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Recent Publications

Zhang L (2026). [PMID: 41987258](https://pubmed.ncbi.nlm.nih.gov/41987258/). *Mol Cytogenet*. [Case Report / Case Series]
Lee C (2025). [PMID: 41090613](https://pubmed.ncbi.nlm.nih.gov/41090613/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Alkhataybeh RAM (2025). [PMID: 40645149](https://pubmed.ncbi.nlm.nih.gov/40645149/). *J Clin Neurosci*. [Case Report / Case Series]
Yang X (2025). [PMID: 40660283](https://pubmed.ncbi.nlm.nih.gov/40660283/). *Mol Cytogenet*. [Diagnostic / Biomarker]
Chen CP (2024). [PMID: 39266167](https://pubmed.ncbi.nlm.nih.gov/39266167/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Chen CP (2024). [PMID: 39266143](https://pubmed.ncbi.nlm.nih.gov/39266143/). *Taiwan J Obstet Gynecol*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3310

GARD

Genetic and Rare Diseases Info Center

GARD:42

Questions for Your Care Team

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tetrasomy 9p

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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