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short stature-webbed neck-heart disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-webbed neck-heart disease syndrome

MONDO:0017315

Also known as:Al Gazali-Aziz-Salem syndromeshort stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart diseaseshort stature, webbed neck, heart disease

Overview

Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.

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 common findings: Webbed neck, Short neck, Intellectual disability, and Abnormal heart morphology and others.

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

Diagnosis

Biomarker and diagnostic research for short stature-webbed neck-heart disease syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 short stature-webbed neck-heart disease syndrome.

103 publications have been identified in PubMed for short stature-webbed neck-heart disease syndrome. Research spans Review / Meta-Analysis (39%), Other (23%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Research summaries	38	39%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2865

GARD

Genetic and Rare Diseases Info Center

GARD:583

Questions for Your Care Team

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Kisho

short stature-webbed neck-heart disease syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

short stature-webbed neck-heart disease syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications