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disorder of fucoglycosan synthesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

disorder of fucoglycosan synthesis

MONDO:0017747

Overview

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.

GeneReviews

Clinical Guidance

Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay / intellectual disability, typical facial features, and cleft lip/palate. Unless otherwise stated, the following description of clinical findings is based on the reports of and . Eyes. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Peters' anomaly may be classified as type I, a mild form, or type II, a more severe form associated with lens abnormalities including cataracts, congenital glaucoma, and a poorer visual prognosis . The eye involvement is usually, but not always, bilateral.

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

Suggestive Findings

Peters plus syndrome should be suspected in individuals with anterior chamber anomalies of the eye (usually bilateral but in some cases unilateral), with or without any of the following:

Short limbs with broad distal extremities
Characteristic facial features including an exaggerated Cupid's bow of the upper lip, short palpebral fissures, and ear anomalies

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 disorder of fucoglycosan synthesis. The disease remains an area of unmet medical need.

Gene therapy approaches for disorder of fucoglycosan synthesis have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Peters plus syndrome, the following evaluations are recommended if they have not already been completed:

Prognosis

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

GeneReviews

Surveillance Guidelines

The following are appropriate:

Assessment by a pediatric ophthalmologist every three months or as indicated to monitor for glaucoma and amblyopia
Regular developmental assessments

Source: GeneReviews — "Peters Plus Syndrome"

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 disorder of fucoglycosan synthesis.

207 publications have been identified in PubMed for disorder of fucoglycosan synthesis. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (35%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Laboratory research	88	43%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309505

GARD

Genetic and Rare Diseases Info Center

GARD:21341

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?

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Kisho

disorder of fucoglycosan synthesis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Clinical Trials

Recent Publications

disorder of fucoglycosan synthesis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Clinical Trials

Recent Publications