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skeletal dysplasia-epilepsy-short stature syndrome - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

skeletal dysplasia-epilepsy-short stature syndrome

MONDO:0011011

Also known as:Gurrieri-Sammito-Bellussi syndromeGURRIERI syndromeintellectual disability, epilepsy, short stature and skeletal dysplasia

Overview

Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.

GeneticsAutosomal recessive

Treatments10 FDA approved

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: Skeletal dysplasia, Delayed skeletal maturation, Short stature, and Seizure and 4 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Skeletal dysplasia, Delayed skeletal maturation, Decreased anterioposterior diameter of lumbar vertebral bodies

Diagnosis

Biomarker and diagnostic research for skeletal dysplasia-epilepsy-short stature syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for skeletal dysplasia-epilepsy-short stature syndrome, including somatropin (Nutropin, approved 1993). An additional 1 compound holds orphan drug designation.

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

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 skeletal dysplasia-epilepsy-short stature syndrome.

303 publications have been identified in PubMed for skeletal dysplasia-epilepsy-short stature syndrome. Kisho has analyzed 65 by research type. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Patient case studies	22	34%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601187

Orphanet

European rare disease database

Orphanet:1858

GARD

Genetic and Rare Diseases Info Center

GARD:350

Questions for Your Care Team

→What are the benefits and potential side effects of Nutropin for managing skeletal dysplasia-epilepsy-short stature syndrome?
→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

skeletal dysplasia-epilepsy-short stature syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Orphan Drug Designations

Clinical Trials

Recent Publications

skeletal dysplasia-epilepsy-short stature syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

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

Orphan Drug Designations

Clinical Trials

Recent Publications