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ulna hypoplasia-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ulna hypoplasia-intellectual disability syndrome

MONDO:0010165

Also known as:bilateral ulnar hypoplasia and intellectual disabilitybilateral ulnar hypoplasia and mental retardationmesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability

Overview

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

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 ulna hypoplasia-intellectual disability syndrome.

14 publications have been identified in PubMed for ulna hypoplasia-intellectual disability syndrome. Research spans Clinical Trial Publication (62%), Case Report / Case Series (15%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Clinical study results	8	62%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:276821

Orphanet

European rare disease database

Orphanet:2249

GARD

Genetic and Rare Diseases Info Center

GARD:5398

Questions for Your Care Team

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ulna hypoplasia-intellectual disability syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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