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

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

Rare Disease

craniodigital syndrome-intellectual disability syndrome

MONDO:0015463

Also known as:Scott craniodigital syndromeScott-Bryant-Graham syndromeScott craniodigital syndrome with intellectual disability

Overview

Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.

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 very common findings: Brachycephaly, Micrognathia, Narrow nasal bridge, and Long eyelashes and others; and sometimes findings: Spina bifida occulta.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Intellectual disability

Diagnosis

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

Prognosis

Phenotype severity distribution: 13 very 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 craniodigital syndrome-intellectual disability syndrome.

143 publications have been identified in PubMed for craniodigital syndrome-intellectual disability syndrome. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	94	66%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:312860

Orphanet

European rare disease database

Orphanet:1514

GARD

Genetic and Rare Diseases Info Center

GARD:4776

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

Kisho

craniodigital syndrome-intellectual disability syndrome

Overview

Clinical Presentation

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

craniodigital syndrome-intellectual disability syndrome

Overview

Clinical Presentation

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