This is a patient with Helsmoortel-van der Aa syndrome due to a mutation in the Activity Dependent Neuroprotector Homeobox (ADNP) gene. He has short stature and poor growth velocity, hypotonia, gastroesophageal reflux disease (GERD), small bowel hypomotility, developmental delay, laryngeal cleft status/post (s/p) repair, chronic lung disease, moderate persistent asthma, cortical visual impairment, and secondary adrenal insufficiency from exogenous steroids. The patient responded to growth hormone (GH) therapy with a boost in growth velocity and improvement in muscle tone, and continuation of therapy is being requested. The health plan's detemination is overturned. The patient meets most of the criteria for GH treatment of short stature. His rare genetic syndrome is known to be associated with poor growth and hormone deficiencies. He responded to a trial of GH therapy with improved growth velocity and improvement in his muscle tone. Continuation of GH therapy is medically necessary in order for him to achieve his height potential.

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