Learn About Tetra-Amelia Syndrome
Tetra-amelia syndrome (sometimes known as TETAMS) is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.)
Variants (also called mutations) in two genes have been found to cause tetra-amelia syndrome. Variants in the WNT3 gene cause tetra-amelia syndrome type 1 and variants in the RSPO2 gene cause tetra-amelia syndrome type 2.
Tetra-amelia syndrome is a very rare condition that has been described in only a few families worldwide. Because this condition is so severe, the frequency is reported to be at least 30 times higher among stillbirths than among live births.
Tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
John Stack is a Physician Assistant in Oroville, California. Mr. Stack is rated as a Distinguished provider by MediFind in the treatment of Tetra-Amelia Syndrome. His top areas of expertise are Tetra-Amelia Syndrome, Vitamin B12 Deficiency, Relapsing Multiple Sclerosis (RMS), and Phantom Limb Pain.
Corewell Health Pediatric Orthopedics - 35 Michigan St NE
Lisa Maskill is a Pediatric Orthopedics provider in Grand Rapids, Michigan. Dr. Maskill has been practicing medicine for over 21 years and is rated as an Advanced provider by MediFind in the treatment of Tetra-Amelia Syndrome. Her top areas of expertise are Brachydactyly Type A2, Accessory Navicular Bone, Brachydactyly Type C, and Brachydactyly Type B. Dr. Maskill is currently accepting new patients.
Fairview Express Care
Ann Van Heest is an Orthopedics specialist and a Hand Surgeon in Minneapolis, Minnesota. Dr. Van Heest is rated as an Advanced provider by MediFind in the treatment of Tetra-Amelia Syndrome. Her top areas of expertise are Syndactyly, Hereditary Multiple Osteochondromas, Symphalangism Distal, and Acromicric Dysplasia. Dr. Van Heest is currently accepting new patients.
Published Date: February 17, 2023
Published By: National Institutes of Health