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cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Strabismus, Inferior cerebellar vermis hypoplasia, Pes planus, and Intellectual disability and others; and common findings: Seizure. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Poor speech, Hypoplasia of the brainstem, Seizure
Eyes	3	Strabismus, Gaze-evoked nystagmus, Cataract
Muscles	3	Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Generalized hypotonia
Growth and development	1	Short stature
Arms and legs	1	Lower limb hyperreflexia

GeneReviews

Clinical Guidance

VLDLR cerebellar hypoplasia is a congenital non-progressive disorder characterized by cerebellar ataxia and intellectual disability. To date, more than 50 individuals have been identified with a pathogenic variant in VLDLR [, , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Features of VLDLR Cerebellar Hypoplasia

Feature	Number (%) of Persons w/Feature	Comment
Cerebellar hypoplasia	44/44 (100%)	—
Pontine hypoplasia	36/44 (81.8%)	—

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

VLDLR cerebellar hypoplasia (VLDLR-CH) is a subgroup of dysequilibrium syndrome (DES), a spectrum of genetically heterogeneous conditions that combines non-progressive cerebellar ataxia with intellectual disability inherited in an autosomal recessive manner.

Suggestive Findings

VLDLR cerebellar hypoplasia should be suspected in individuals with the following major diagnostic features:

Source: GeneReviews — "VLDLR Cerebellar Hypoplasia"

GeneReviews

Differential Diagnosis

The differential diagnosis of VLDLR cerebellar hypoplasia (VLDLR-CH) includes autosomal recessive conditions characterized by congenital or very early-onset cerebellar ataxia associated with cerebellar hypoplasia. Because cerebellar hypoplasia can be difficult to distinguish from cerebellar atrophy on early imaging, conditions characterized by the latter should also be considered . Note: Diverse phenotypes associated with childhood- and adult-onset ataxia are to be excluded (see Hereditary Ataxia Overview, Table 3. Autosomal Recessive Cerebellar Ataxias: Single-Gene Disorders). Table 3. Genes and Disorders of Interest in the Differential Diagnosis of VLDLR Cerebellar Hypoplasia

Gene(s)	Disorder	Brain Imaging	Neurologic Findings
AHI1CPLANE1CC2D2ACEP290(~34 genes)1	Joubert syndrome related disorders2	"Molar tooth sign" (hypoplasia of cerebellar vermis assoc brain stem abnormalities resembling a tooth)

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

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 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1. 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 VLDLR cerebellar hypoplasia (VLDLR-CH), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with VLDLR Cerebellar Hypoplasia

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	Brain MRI; Consider EEG if seizures are a concern.
Developmental	Developmental assessment	Adaptive, cognitive, speech-language eval
Musculoskeletal	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Mobility, activities of daily living, need for adaptive devices;; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills);
Eyes	Ophthalmologic eval	To assess for strabismus Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	To incl genetic counseling reproductive options Family support/resources

Source: GeneReviews — "VLDLR Cerebellar Hypoplasia"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "VLDLR Cerebellar Hypoplasia"

Clinical Trials

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cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Overview

Clinical Presentation

Clinical Guidance

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Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

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Prognosis

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Cerebellar ataxia

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cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Seizures

Cerebellar ataxia

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team