Myhre syndrome

Myhre syndrome is a rare multiple congenital anomalies syndrome recorded by Orphanet under ORPHAcode 2588. Orphanet describes affected people as short in stature, with distinctive facial features, short fingers and toes known as brachydactyly, stiff and thickened skin, an unusually muscular build caused by muscular pseudohypertrophy, restricted movement in the joints, hearing loss and a variable degree of intellectual disability. Involvement of the heart and circulation and of the airways is common. Orphanet lists several older and descriptive names, among them Myhre-LAPS syndrome and facial dysmorphism, intellectual disability, short stature and hearing loss syndrome. It is typed as a malformation syndrome and cross-referenced to the ICD-10 code Q87.8, in the chapter on congenital malformations, deformations and chromosomal abnormalities.