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distal 17p13.1 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal 17p13.1 microdeletion syndrome

MONDO:0017867

Also known as:distal del(17)(p13.1)

Overview

Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.

ResearchLimited published research (3 articles)

Prognosis

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 distal 17p13.1 microdeletion syndrome.

3 publications have been identified in PubMed for distal 17p13.1 microdeletion syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

van Kampen F (2025). [PMID: 39966556](https://pubmed.ncbi.nlm.nih.gov/39966556/). *Oncogene*. [Basic Science / Preclinical]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes*. [Case Report / Case Series]
Bartek V (2024). [PMID: 39062246](https://pubmed.ncbi.nlm.nih.gov/39062246/). *Children (Basel, Switzerland)*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:319171

GARD

Genetic and Rare Diseases Info Center

GARD:10996

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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distal 17p13.1 microdeletion syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team