Van Den Bosch syndrome
| 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 | ||||||
|---|---|---|---|---|---|---|
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Rare diseases - Van Den Bosch syndrome
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Resources
| Additional resources | ||
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Van Den Bosch syndrome
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