Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

defect in conserved oligomeric Golgi complex - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

defect in conserved oligomeric Golgi complex

MONDO:0017750

Also known as:defect in COG complex

Overview

OnsetCHILDHOOD, INFANTILE, NEONATAL, ANTENATAL, CONGENITAL

ResearchLimited published research (9 articles)

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.

No HPO annotations are available for this condition.

Age of onset: childhood, infancy, newborn period, before birth, at birth.

GeneReviews

Clinical Guidance

Saul-Wilson syndrome is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. A total of 16 individuals with Saul-Wilson syndrome have been reported to date. Saul-Wilson syndrome was first described in a small-for-gestational-age infant with bulging fontanelles, clubfoot, blue sclerae, and blunted fingertips; over time, growth was delayed and the child developed bilateral cataracts, and hearing loss as the result of frequent otitis media .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for Saul-Wilson syndrome have not been established.

Suggestive Findings

Saul-Wilson syndrome should be suspected in individuals with the following clinical, laboratory, and imaging findings .

Clinical findings

Source: GeneReviews — "Saul-Wilson Syndrome"

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.

No approved treatments are currently available for defect in conserved oligomeric Golgi complex. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Saul-Wilson syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Saul-Wilson Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Saul-Wilson Syndrome

System/Concern

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 defect in conserved oligomeric Golgi complex.

9 publications have been identified in PubMed for defect in conserved oligomeric Golgi complex. Research spans Basic Science / Preclinical (89%) and Review / Meta-Analysis (11%).

Recent Publications

Zhou Y (2026). [PMID: 41824529](https://pubmed.ncbi.nlm.nih.gov/41824529/). *PLoS Genet*. [Basic Science / Preclinical]
Yu H (2026). [PMID: 41448066](https://pubmed.ncbi.nlm.nih.gov/41448066/). *Plant Physiol Biochem*. [Basic Science / Preclinical]
Imamura I (2026). [PMID: 41203586](https://pubmed.ncbi.nlm.nih.gov/41203586/). *Mol Microbiol*. [Basic Science / Preclinical]
Micale L (2026). [PMID: 42202558](https://pubmed.ncbi.nlm.nih.gov/42202558/). *Mol Genet Metab*. [Basic Science / Preclinical]
Sumya FT (2025). [PMID: 40397568](https://pubmed.ncbi.nlm.nih.gov/40397568/). *Mol Biol Cell*. [Basic Science / Preclinical]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309568

GARD

Genetic and Rare Diseases Info Center

GARD:21344

Questions for Your Care Team

→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

System/Concern	Evaluation	Comment
Constitutional	Measurement of HT, WT, HC	Assess for evidence of linear growth failure using SWS-specific growth charts. Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval	Avoid overfeeding.
Development	Developmental assessment	To incl motor speech/language eval
Musculoskeletal	Refer to physiatry clinic (OT/PT, rehab specialist).	To evaluate fine gross motor skills, mobility, activities of daily living Refer to orthopedist.
Eyes	Ophthalmologic eval	To incl assessment for rod-cone dystrophy in individuals old enough to cooperate:; BCVA; Refractive error; Assessment of dark adaptation; Full-field ERG; Spectral-domain OCT Young children: assess visual acuity refractive error as a baseline.Children adolescents: assess for cataracts.
Hearing	Audiologic eval1	Assess for SNHL conductive hearing loss.
Hematology	Complete blood count w/absolute neutrophil count	To evaluate for neutropenia
Liver	Aspartate aminotransferase, alanine aminotransferase	To evaluate for liver enzymes Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	Family support resources
Treatment of Manifestations in Individuals with Saul-Wilson Syndrome Manifestation/Concern	Treatment	Considerations/Other Delayed
development	See .	—
Musculoskeletal	Skeletal dysplasia or physiatry clinic (orthopedics, OT/PT, rehab specialist)	Address mobility issues in those w/residual foot deformities (post-club foot repair), osteoarticular pain. Cervical spine
compression	Surgical mgmt for medullopathy (C1-C2 fixation) by expert familiar w/skeletal dysplasias spine involvement	Given possibility of C1-C2 subluxation /or spinal cord compression, follow best practices in perioperative mgmt of those w/skeletal dysplasias.1 Cataract / Retinal
dystrophy	Standard treatment(s) as recommended by ophthalmologist	Cataracts: Consider surgery when dense to prevent amblyopiaRetinal dystrophy:; Night vision scopes or selected wavelength filters2; Community vision services in teen yrs / young adulthood3 Hearing loss
Neutropenia	Per treating immunologist or infectious disease specialist	If frequent infections: consider GCSF to improve absolute neutrophil counts.5 Family/ Community

Kisho

defect in conserved oligomeric Golgi complex

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Silver-Russell syndrome

Clinical Guidance

Clinical Trials

defect in conserved oligomeric Golgi complex

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Silver-Russell syndrome

Clinical Guidance

Clinical Trials