Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. The disease is Monarch Disease Ontology id MONDO_0007688 (Myhre syndrome). Also known as: facial dysmorphism-intellectual disability-short stature-hearing loss syndrome.