Van Den Bosch syndrome

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Van Den Bosch syndrome
Synonyms
Pronounce N/A
Specialty N/A
Symptoms Intellectual disability, epilepsy, dysmorphic features
Complications N/A
Onset
Duration
Types
Causes Genetic mutation
Risks
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment Supportive care, symptomatic treatment
Medication Antiepileptic drugs
Prognosis
Frequency
Deaths


Alternate names

Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity

Definition

Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.

NIH genetic and rare disease info

Van Den Bosch syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Van Den Bosch syndrome

A-Z list of rare diseases
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Also see
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Additional resources

Van Den Bosch syndrome

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