Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

arachnodactyly-abnormal ossification-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arachnodactyly-abnormal ossification-intellectual disability syndrome

MONDO:0015234

Also known as:Kosztolanyi syndromearachnodactyly, abnormal ossification and intellectual disabilityarachnodactyly, abnormal ossification and mental retardation

Overview

Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.

Diagnosis

Biomarker and diagnostic research for arachnodactyly-abnormal ossification-intellectual disability syndrome has been reported in the published literature.

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 arachnodactyly-abnormal ossification-intellectual disability syndrome.

203 publications have been identified in PubMed for arachnodactyly-abnormal ossification-intellectual disability syndrome. Kisho has analyzed 114 by research type. Research spans Review / Meta-Analysis (39%), Case Report / Case Series (19%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	45

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 3:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1129

GARD

Genetic and Rare Diseases Info Center

GARD:381

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

arachnodactyly-abnormal ossification-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications