The clinical presentation is variable but includes * developmental and growth delay * athletic muscular built * skeletal anomalies * joint stiffness * characteristic facial appearance * deafness * variable cognitive deficits * tracheal stenosis * aortic stenosis * pyloric stenosis The facial abnormalities include: * blepharophimosis (an abnormally narrow gap between the upper and lower eyelids) * maxillary hypoplasia (underdevelopment of the upper jaw) * prognathism (prominent lower jaw) The skeletal abnormalities include: * short stature * square body shape * broad ribs * iliac hypoplasia * brachydactyly * flattened vertebrae * thickened calvaria Congenital heart disease and undescended testes have also been reported in association with this syndrome.
Myhre syndrome
MORM syndrome
Barakat syndrome
Jacobsen syndrome
McGillivray syndrome
Mungan syndrome
Andersen–Tawil syndrome
Galloway Mowat syndrome