Myhre syndrome affects growth and development and is characterised by intellectual disability, short stature, unusual facial features, and various bone (skeletal) differences.
The physical signs of Myhre syndrome include some typical facial features with unusually narrow openings of the eyelids (short palpebral fissures), underdevelopment of the upper jaw bone (maxillary hypoplasia), a more prominent lower jaw (prognathism), small mouth with thin upper lip and short distance between nose and lips (a short philtrum). Some children with the condition can also have an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both.
Skeletal anomalies include short stature, square body shape, broad ribs, underdevelopment of the winglike structures of the pelvis (iliac hypoplasia), flattened bones of the spine (platyspondyly), unusually short fingers and toes (brachydactyly) and thickening of the skull bones (thickened calvaria).
Individuals with the condition also tend to have a muscular appearance (muscular hypertrophy), and skin and joint stiffness limiting joint mobility.
Hearing loss, congenital heart defects and constriction of the throat (laryngotracheal stenosis) are also commonly seen in people with Myhre syndrome.
Most have an intellectual disability that ranges from mild to moderate. Delayed speech and motor skills, such as crawling and walking, are often seen and some have behavioral issues, such as features of autism. Boys also have undescended testes (cryptorchidism).
The way in which the condition affects someone varies from individual to individual. The condition is extremely rare with 55 cases having been reported worldwide. Both males and females can be affected.
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