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short stature-brachydactyly-obesity-global developmental delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-brachydactyly-obesity-global developmental delay syndrome

MONDO:0014944

Also known as:SBIDDSshort stature, brachydactyly, intellectual developmental disability, and seizures

Overview

GeneticsAutosomal recessive · PRMT7 (chr 16)

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 always present findings: Tethered cord, Delayed CNS myelination, Renal hypoplasia, and Short stature and others; and very common findings: Low muscle tone (hypotonia). 63 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Mild intellectual disability, Intellectual disability, Global developmental delay

Genetic Landscape

PRMT7 function has not been fully characterized.

Short stature-brachydactyly-obesity-global developmental delay syndrome is associated with mutations in the PRMT7 gene on chromosome 16.

Diagnosis

Genetic testing for PRMT7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short stature-brachydactyly-obesity-global developmental delay syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 31 always present features, 1 very common feature, 12 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-brachydactyly-obesity-global developmental delay syndrome.

203 publications have been identified in PubMed for short stature-brachydactyly-obesity-global developmental delay syndrome. Kisho has analyzed 25 by research type. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (28%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Laboratory research	10

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617157

Orphanet

European rare disease database

Orphanet:464288

GARD

Genetic and Rare Diseases Info Center

GARD:17817

Questions for Your Care Team

→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?

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Kisho

short stature-brachydactyly-obesity-global developmental delay syndrome

Overview

Clinical Presentation

Genetic Landscape

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

short stature-brachydactyly-obesity-global developmental delay syndrome

Overview

Clinical Presentation

Genetic Landscape

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