MEHMO syndrome

MEHMO syndrome is a rare condition that affects multiple parts of the body. It is characterized by severe intellectual disability, epilepsy, microcephaly (a small head), hypogenitalism (underdeveloped genital organs), and obesity. In addition, growth delays and diabetes have been noted. This condition has been described in a few cases, all in boys, with all affected children dying within the first two years of life. The syndrome has been linked to a region on the X chromosome (21.1-22.13p) and appears to result from mitochondrial dysfunction. The gene associated with this syndrome is EIF2S3. The information available comes from specific studies and reports, so further details may be limited at this time.

The main symptoms of MEHMO syndrome include severe intellectual disability and epilepsy. People with this condition may have microcephaly (a small head size), hypogenitalism, obesity, and delayed growth. Diabetes has also been observed in some cases.

MEHMO syndrome is caused by a genetic change on the X chromosome. The gene linked to this condition is EIF2S3, and the syndrome seems to result from problems with mitochondrial function. Because the condition is X-linked recessive, it primarily affects boys.

Information about treatment is currently limited for this condition.

The outlook for people with MEHMO syndrome is very severe. Every reported case has involved early death, with affected children not surviving beyond the first two years of life. This important detail highlights the significant challenges associated with the condition.

Information about research is currently limited for this condition.