Myhre syndrome
MONDO:0007688Myhre 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: Myhre syndrome, facial dysmorphism-intellectual disability-short stature-hearing loss syndrome, Growth mental deficiency syndrome of Myhre, Growth-mental deficiency syndrome of Myhre, LAPS syndrome, MYHRE syndrome, MYHRS, facial dysmorphism - intellectual deficit - short stature - hearing loss
67 clinical trials for this condition and its sub-types.
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