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X-linked intellectual disability-acromegaly-hyperactivity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

X-linked intellectual disability-acromegaly-hyperactivity syndrome

MONDO:0019424

Overview

X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.

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: Spinal arachnoid cyst, Decreased serum insulin-like growth factor 1, Macroorchidism, and Triangular face and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Aggressive behavior, Dysarthria, Profound intellectual disability

Diagnosis

Biomarker and diagnostic research for X-linked intellectual disability-acromegaly-hyperactivity syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 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 X-linked intellectual disability-acromegaly-hyperactivity syndrome.

200 publications have been identified in PubMed for X-linked intellectual disability-acromegaly-hyperactivity syndrome. Research spans Basic Science / Preclinical (34%), Case Report / Case Series (30%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	59	34%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:85327

GARD

Genetic and Rare Diseases Info Center

GARD:19060

Questions for Your Care Team

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Kisho

X-linked intellectual disability-acromegaly-hyperactivity syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

X-linked intellectual disability-acromegaly-hyperactivity syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications