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microcephaly, short stature, and limb abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly, short stature, and limb abnormalities

MONDO:0060533

Also known as:MISSLA

Overview

GeneticsAutosomal recessive · DONSON (chr 21)

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: Microcephaly and Short stature; and common findings: Mild intellectual disability and Global developmental delay. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Mild intellectual disability, Global developmental delay

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DONSON encodes DNA replication fork stabilization factor DONSON (566 aa). Replisome component that maintains genome stability by protecting stalled or damaged replication forks. Highest expression in Testis (45.2 TPM) and Ovary (32.0 TPM).

Microcephaly, short stature, and limb abnormalities is associated with mutations in the DONSON gene on chromosome 21.

DONSON is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for DONSON is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 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 microcephaly, short stature, and limb abnormalities.

10 publications have been identified in PubMed for microcephaly, short stature, and limb abnormalities. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Research Type	Count	% of Total
Patient case studies	6	60%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617604

Orphanet

European rare disease database

Orphanet:572773

GARD

Genetic and Rare Diseases Info Center

GARD:18655

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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Kisho

microcephaly, short stature, and limb abnormalities

Overview

Clinical Presentation

Genetic Landscape

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

microcephaly, short stature, and limb abnormalities

Overview

Clinical Presentation

Genetic Landscape

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