Neurodevelopmental disorders: Most individuals with this disorder will experience a degree of learning and developmental challenges. This includes individuals with only mild issues to those with more profound impairment and intellectual disability. Autism spectrum disorder has also been associated with damaging changes to the MYH10 gene.
Neurologic features: It is not uncommon for a child with this disorder to have low tone in early life that may improve with age. Some children have also been identified to have seizures. Structural brain differences may be revealed by MRI.
Cardiac: Structural heart differences are also common in this disorder and can include ‘holes’ in the heart (atrial septal defect, ventricular septal defect), changes to the valves of the heart, and differences to how the aorta forms (the large vessel coming out of the heart that delivers blood to the body).
Ocular: Many individuals with this disorder will have difficulty in fully opening their eyes (ptosis) and some may need corrective lenses. An eye defect known as a coloboma has also been reported in individuals as well as defects in the nerves that control eye and facial movements.
GI: Constipation may be a common issue in children with this disorder. There are reports of children with significant feeding difficulties requiring a gastrostomy tube to provide nutrition. Babies born with the intestines outside of the body (omphalocele) has also been reported.
Musculoskeletal: Changes to the skeleton have also been reported in affected individuals including hip dysplasia, scoliosis, contractures, and changes to how the rib cage forms.
Genitourinary: Some individuals may have structural changes to their kidneys such as cysts or dilation of the ureters. Changes to the genitals have also been noted such as retracted testicles or differences to the scrotum.
Respiratory: While less common, there were individuals reported to have significant breathing issues. This may be related to a disorder called ‘interstitial lung disease’ or also changes to how the rib cage formed leading to breathing difficulties.
MYH10