Myhre Syndrome is a multi system, connective tissue disorder. Symptoms include congenital heart defects, musculoskeletal issues such as scoliosis. Laryngotracheal stenosis, stenosis of arteries, stenosis causing lots of problems across the body systems. Hearing loss affects the majority of Myhre patients, speech problems, developmental delay, early puberty, autism, spd.
Physically myhre syndrome has very distinctive facial features small deep set eyes, under developed nasal bridge and small mouth with thin lips , short stature, microcephaly. Short hands and feet.