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.
Taubman Center
Dr. Emily Stucken is an associate professor in the Department of Otolaryngology-Head and Neck Surgery at the University of Michigan. She specializes in diseases of the ear and skull base. Dr. Stucken completed a residency in Otolaryngology-Head and Neck Surgery at New York Presbyterian Hospital, the University Hospital of Columbia and Cornell. During this time, she also performed skull base operations at Memorial Sloan Kettering Cancer Center and trained in pediatric otolaryngology at the Children’s Hospital of New York. Dr. Stucken completed advanced fellowship training in otology and neurotology at the Michigan Ear Institute. Dr. Stucken has received awards for excellence in clinical care, teaching, and research. She has published numerous scholarly articles and book chapters in peer-reviewed journals and otolaryngology texts. She is an active member of the American Academy of Otolaryngology–Head and Neck Surgery and the American Neurotology Society and serves on national committees for these organizations. Dr. Stucken is also involved in humanitarian outreach work and has traveled to Cambodia to perform ear surgery on underserved patients. She is proficient in Spanish and French.Dr. Stucken is the director of the Cochlear Implant Center at the University of Michigan. In addition to her clinical practice, Dr. Stucken is invested in the advancement of knowledge and is an NIH-funded researcher in hearing sciences. She is a clinical faculty member at the Kresge Hearing Research Institute and has led international research collaboration. Dr. Stucken also runs the Temporal Bone Dissection Lab at the University of Michigan and directs the Temporal Bone Dissection Course.Dr. Stucken’s approach to otolaryngology and otology-neurotology combines a strong background of clinical and academic expertise with a dedicated personal approach to patient care. Through this personal approach, she works to help patients understand their disease process and treatment options. The ear represents one of the most complex and intricate organs in the human body; just as diseases of the ear and skull base can be debilitating to a person’s interactions with the everyday world, the treatment for these diseases can restore a patient’s quality of life. Dr. Stucken works diligently toward providing specialized care to every patient on an individual basis to achieve the best possible outcomes. Dr. Stucken is rated as a Distinguished provider by MediFind in the treatment of Tetra-Amelia Syndrome. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Acoustic Neuroma, Schwannoma, Glomus Tympanum Tumor, Glomus Jugulare Tumor, and Myringotomy. Dr. Stucken is board certified in Otolaryngology-Head & Neck Surgery and Neurotology.
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, Liebenberg Syndrome, and Brachydactyly Type B. Dr. Ty is board certified in American Board Of Orthopaedic Surgery.
Published Date: February 17, 2023
Published By: National Institutes of Health