MMEP syndrome

MMEP syndrome is a rare congenital condition that affects the development of several parts of the body. It is a syndromic form of split-hand/foot malformation (SHFM) and is characterized by a smaller head size (microcephaly), small eyes (microphthalmia), unusual formation of the lower limbs (ectrodactyly), and a jaw that projects forward (prognathism). In some cases, people with this condition may also experience intellectual disability. Because the syndrome is very rare, its prevalence is unknown. The exact causes are not completely understood, but some studies have suggested that changes in the sorting nexin 3 gene (SNX3) may be involved. However, this genetic link has not been confirmed in recent research. This uncertainty highlights the complexity of the syndrome and the need for further studies.

People with MMEP syndrome may have a number of physical features including microcephaly (a smaller head), microphthalmia (small eyes), ectrodactyly (a split or malformation of the lower limbs), and prognathism (a forward-projecting jaw). Some individuals may also experience intellectual deficits.

The causes of MMEP syndrome are not fully understood. Research has suggested that disruption of the sorting nexin 3 gene (SNX3) on chromosome 6q21 might play a role, but this finding has not been confirmed by recent studies. There are no well-defined risk factors at this time.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.