Tetra-Amelia SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
Brighton Center For Specialty Care
Richard Hennig is a Cardiologist and an Internal Medicine provider practicing medicine in Brighton, Michigan. Dr. Hennig is rated as an Advanced provider by MediFind in the treatment of Tetra-Amelia Syndrome. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Arrhythmias, Atherosclerosis, Coronary Heart Disease, Pacemaker Implantation, and Heart Bypass Surgery. Dr. Hennig is board certified in Cardiovascular Disease.
Nemours Children's Hospital, Delaware
Jennifer Ty is an Orthopedics provider practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 5 years. Dr. Ty is rated as an Advanced provider by MediFind in the treatment of Tetra-Amelia Syndrome. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Ganglion Cyst, Hypoplasia of the Tibia with Polydactyly, Brachydactyly Type B, and Brachydactyly Type C. Dr. Ty is board certified in American Board Of Orthopaedic Surgery.
Corewell Health Pediatric Orthopedics - 35 Michigan St NE
Lisa Maskill is a Pediatric Orthopedics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 21 years. Dr. Maskill is rated as an Advanced provider by MediFind in the treatment of Tetra-Amelia Syndrome. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Congenital Radioulnar Synostosis, Brachydactyly Type B, Liebenberg Syndrome, and Brachydactyly Type A2. Dr. Maskill is board certified in American Board Of Orthopaedic Surgery. Dr. Maskill is currently accepting new patients.
Published Date: February 17, 2023
Published By: National Institutes of Health