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.
Duygu Duman is in Ankara, Turkey. Duman is rated as a Distinguished expert by MediFind in the treatment of 3MC Syndrome. They are also highly rated in 7 other conditions, according to our data. Their top areas of expertise are 3MC Syndrome, Nonsyndromic Hearing Loss, Branchio-Oculo-Facial Syndrome BOFS, and Hearing Loss.
Deepak Patel is an Internal Medicine doctor in Corsicana, Texas. Dr. Patel has been practicing medicine for over 36 years and is rated as an Advanced doctor by MediFind in the treatment of 3MC Syndrome. He is also highly rated in 35 other conditions, according to our data. His top areas of expertise are Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Dementia. He is licensed to treat patients in Texas. Dr. Patel is currently accepting new patients.
Hans Bjornsson is a Pediatrics specialist and a Medical Genetics doctor in Baltimore, Maryland. Dr. Bjornsson has been practicing medicine for over 21 years and is rated as an Advanced doctor by MediFind in the treatment of 3MC Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Kabuki Syndrome, Stickler Syndrome, 3MC Syndrome, and Coffin-Lowry Syndrome. He is licensed to treat patients in Maryland. Dr. Bjornsson is currently accepting new patients.
Published Date: July 01, 2018Published By: National Institutes of Health
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