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chromosome 10q23 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 10q23 deletion syndrome

MONDO:0012830

Also known as:Del(10)(q22.3q23.3)deletion 10q22.3q23.3monosomy 10q22.3q23.3

Overview

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.

OnsetCONGENITAL

ResearchLimited published research (1 article)

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: Arachnodactyly, Upslanted palpebral fissure, Expressive language delay, and Deeply set eye and 10 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Thin upper lip vermilion, Macrocephaly
Brain and nerves

Diagnosis

Biomarker and diagnostic research for chromosome 10q23 deletion syndrome has been reported in the published literature.

Prognosis

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 chromosome 10q23 deletion syndrome.

1 publication has been identified in PubMed for chromosome 10q23 deletion syndrome. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Jiang L (2025). [PMID: 39984519](https://pubmed.ncbi.nlm.nih.gov/39984519/). *NPJ Genom Med*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612242

Orphanet

European rare disease database

Orphanet:276413

GARD

Genetic and Rare Diseases Info Center

GARD:17280

Questions for Your Care Team

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chromosome 10q23 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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