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pterygium colli-intellectual disability-digital anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pterygium colli-intellectual disability-digital anomalies syndrome

MONDO:0010835

Also known as:khalifa-Graham syndromepterygium colli and intellectual disability with facial and digital anomaliespterygium colli and mental retardation with facial and digital anomalies

Overview

Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.

Diagnosis

Biomarker and diagnostic research for pterygium colli-intellectual disability-digital anomalies 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 pterygium colli-intellectual disability-digital anomalies syndrome.

117 publications have been identified in PubMed for pterygium colli-intellectual disability-digital anomalies syndrome. Kisho has analyzed 78 by research type. Research spans Review / Meta-Analysis (62%), Case Report / Case Series (18%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Research summaries	48	62%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600159

Orphanet

European rare disease database

Orphanet:2988

GARD

Genetic and Rare Diseases Info Center

GARD:4568

Questions for Your Care Team

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pterygium colli-intellectual disability-digital anomalies syndrome

Overview

Diagnosis

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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