3MC SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 3MC Syndrome
3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.
3MC syndrome is caused by mutations in the COLEC10, COLEC11, or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of steps called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during development before birth to form the organs and systems of the body. The lectin complement pathway appears to be particularly important in directing the migration of neural crest cells. These cells give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. After birth, the lectin complement pathway is involved in the immune system.
3MC syndrome is a rare disorder; its prevalence is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Abingdon Internal Medicine
Jennifer Jonkers is a primary care provider, practicing in Internal Medicine in Abingdon, Virginia. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of 3MC Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Jonkers is board certified in .
Corewell Health Lakeland Hospitals Neurology Royalton
Robert Ward is a Neurologist practicing medicine in Saint Joseph, Michigan. He has been practicing medicine for over 40 years. Dr. Ward is rated as an Advanced provider by MediFind in the treatment of 3MC Syndrome. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Autosomal Dominant Partial Epilepsy with Auditory Features, Axillary Nerve Dysfunction, Seizures, and Memory Loss. Dr. Ward is board certified in American Osteopathic Board Of Neurology & Psychiatry and American Osteopathic Board Of Neurology & Psychiatry. Dr. Ward is currently accepting new patients.
Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of 3MC Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.
Published Date: July 01, 2018
Published By: National Institutes of Health