Myhre syndrome
Myhre syndrome
Definition
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.
Also known as facial dysmorphism-intellectual disability-short stature-hearing loss syndrome, Myhre syndrome — per MONDO