Treatment of manifestations in a multidisciplinary team is recommended. Physical, occupational, and speech therapy as needed.
Hearing aids and cochlear implants have been necessary in some individuals with hearing loss.
Growth hormone replacement has been used in two individuals to our knowledge, but we have no details on the long term response.
MORC2 neurodevelopmental disorder is inherited in an autosomal dominant manner.
Most pathogenic variants reported to date have occurred de novo in the patient (i.e. it was not detected in either parent), in which case the recurrence risk is low. In some cases, the pathogenic variant has been inherited from a mildly affected parent, in which case the risk of recurrence is 50%. There are no reports of variants inherited from unaffected parents.
Hearing screening and dilated eye exam should be considered since symptoms appear to be progressive and with variable age of onset. Nerve conduction studies may be necessary to diagnose sensorimotor neuropathy in individuals with weakness and abnormal reflexes.