Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011).
• Informasjon om tilstanden (OMIM nr.: #139210)
Myhre syndrome (MYHRS) is caused by heterozygous mutation in the SMAD4 gene (600993) on chromosome 18q21.