WHAT IS ADNP SYNDROME?
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy.
When mutated, this gene can affect brain formation, development and brain function. In addition to the brain, the ADNP gene also affects many other organs and functions of the body. It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. It can also cause mild to severe delays in intelligence, speech and motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 110 ADNP Syndrome children diagnosed in our database (1.3% of the estimated worldwide prevalence). Males and females are equally likely to be affected by this neuro-genetic disorder. However, the full extent of of ADNP Syndrome is unknown.
There is currently no single gene test for ADNP Syndrome.
*UNIQUE BIOMARKER: A recent study found that 81% of children with ADNP Syndrome have/had "early tooth eruption". Baby teeth come in extremely quickly, the teeth are usually very small, jagged, and with color differences. Most ADNP children have a full mouth of teeth by their 1st birthday, including molars. Early tooth eruption is not seen in any other syndrome, making it a unique and early identified biomarker for ADNP. To read more click here.
Here we describe the ADNP GENE, and the many PHENOTYPE symptoms of ADNP Syndrome known in children.
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy.
When mutated, this gene can affect brain formation, development and brain function. In addition to the brain, the ADNP gene also affects many other organs and functions of the body. It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. It can also cause mild to severe delays in intelligence, speech and motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 110 ADNP Syndrome children diagnosed in our database (1.3% of the estimated worldwide prevalence). Males and females are equally likely to be affected by this neuro-genetic disorder. However, the full extent of of ADNP Syndrome is unknown.
There is currently no single gene test for ADNP Syndrome.
*UNIQUE BIOMARKER: A recent study found that 81% of children with ADNP Syndrome have/had "early tooth eruption". Baby teeth come in extremely quickly, the teeth are usually very small, jagged, and with color differences. Most ADNP children have a full mouth of teeth by their 1st birthday, including molars. Early tooth eruption is not seen in any other syndrome, making it a unique and early identified biomarker for ADNP. To read more click here.
Here we describe the ADNP GENE, and the many PHENOTYPE symptoms of ADNP Syndrome known in children.