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

Rare Disease

arachnodactyly-intellectual disability-dysmorphism syndrome

MONDO:0015235

Also known as:De Die-Smulders-Vles-Fryns syndromedie Smulders Vles Fryns syndromearachnodactyly - intellectual disability - dysmorphism

Overview

Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.

Diagnosis

Biomarker and diagnostic research for arachnodactyly-intellectual disability-dysmorphism 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-intellectual disability-dysmorphism syndrome.

153 publications have been identified in PubMed for arachnodactyly-intellectual disability-dysmorphism syndrome. Research spans Review / Meta-Analysis (48%), Case Report / Case Series (14%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Research summaries	73	48%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1130

GARD

Genetic and Rare Diseases Info Center

GARD:764

Questions for Your Care Team

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arachnodactyly-intellectual disability-dysmorphism 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