Myhre syndrome

Myhre syndrome is composed by facial dysmorphism, short stature, mental retardation, and hearing loss. Only a few cases have been described so far, and all were male.

Those affected showed a strikingly muscular figure, short stature, brachydactyly, limited mobility of the joints, mixed hearing loss and mental retardation to varying degrees. Facial dysmorphisms were also observed.

The nature of heredity is still unclear. In almost half of the cases, however, there was an increased paternal age, which could indicate dominant new mutations.

Myhre syndrome is composed of facial dysmorphism, dwarfism, mental retardation, and loss of hearing. Only a few cases have been described so far, but all have been masculine. The subjects had a highly muscular figure, short stature, brachydactyly, impaired joint mobility, mixed loss of hearing, and mental retardation in varying degrees of expression. Facial dysmorphia were also watching you.

The nature of heredity is still unclear. In nearly half of the cases, however, there was an increased age, which may indicate dominant new mutations.