This website provides information on patients with ELMO2, including clinical data, molecular data, management and research options.
ELMO2 (OMIM #606421) encodes engulfment and cell motility protein 2 and involves in the signalling cascade that controls cytoskeleton dynamics and cell migration. Mutations affecting both alleles of ELMO2 causes primary intraosseous vascular malformation (Vascular Malformation, Osseous, VMOS, OMIM #606893).
VMOS, is an autosomal recessive disorder which is characterized by asymmetric, severe and progressive expansion of blood vessels within the craniofacial bones, variably accompanied by midline abnormalities such as diastasis recti, supraumblical raphe and hiatus hernia. The severe bleeding and increased intracranial pressure during the disease course can be life-threatening. Along with characteristic features of VMOS, additional findings such as intellectual disability, seizures, hypertrichosis and short stature were also reported.
This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of patients with mutations in the ELMO2.
Nurten A. Akarsu, MD and PhD in Medical Genetics (Clinical and Molecular), Hacettepe University Medical Faculty, Ankara, Turkey, firstname.lastname@example.org, email@example.com
Arda Cetinkaya , MD and PhD, Department of Medical Genetics, Zeynep Kamil Women and Children's Hospital , Istanbul, Turkey, firstname.lastname@example.org