Helsmoortel-Van Der Aa Syndrome
Helsmoortel-Van der Aa syndrome is a condition caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. This condition is rare with <100 cases described up to 2018.
Signs and symptoms
These are variable and include autism spectrum disorders, intellectual disability, dysmorphic features and hypotonia.
Genetics
This condition is caused by mutations in the ADNP gene. This gene is located on the long arm of chromosome 20 (20q13.13).
ADNP has been associated with abnormalities in the autophagy pathway in schizophrenia.
Pathogenesis
The ANDP gene is involved in the autophagy pathway. Its precise role in this process is under active investigation.
Diagnosis
This is made by sequencing the ADNP gene.
Treatment
Treatment is symptomatic. This may include speech, occupational, and physical therapy and specialized learning programs depending on individual needs.
Treatment of neuropsychiatric features may also be needed.
Nutritional support is sometimes needed.
Treatment of the ophthalmologic and cardiac finding that may co exist is also indicated.
History
The gene was described in 1999.