Singleton-Merten Syndrome
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Learn About Singleton-Merten Syndrome

What is the definition of Singleton-Merten Syndrome?
Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy); heart arrhythmia, growth and developmental delay; skin problems such as psoriasis; malformation of the hips and/or feet and limbs or fingers, joint problems, tendon rupture, distinct facial features, and vision problems due to glaucoma. Severe systemic lupus erythematosus can also occur with Singleton-Merten syndrome. Singleton-Merten syndrome is caused by genetic changes in the IFIH1 gene, and in the DDX58 genes (which causes an atypical form of Singleton-Merten syndrome where there are no teeth problems). Inheritance is autosomal dominant, but it may also occur sporadically (in individuals with no history of the condition in their family). The genes causing Singeleton-Merten syndrome can activate type I interferon (IFN1) responses. Diseases related to INF1 are known as type I interferonopathies. Type I interferonopathies are a group of rheumatic diseases that are frequently severe. These diseases include Aicardi-Goutiè, res syndrome, familial chilblain lupus, spondyloenchondrodysplasia, the proteasome associated autoinflammatory syndromes, IFN-stimulated gene 15 (ISG15) deficiency, Singleton-Merten syndrome, and STING-associated vasculopathy with onset in infancy (SAVI).
What are the alternative names for Singleton-Merten Syndrome?
  • Singleton-Merten syndrome
  • Merten-Singleton syndrome
  • SM syndrome
  • Singleton-Merten dysplasia
  • Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
  • Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness
Who are the top Singleton-Merten Syndrome Local Doctors?
Elite in Singleton-Merten Syndrome
Elite in Singleton-Merten Syndrome
Muenster, NW, DE 

Frank Rutsch practices in Muenster, Germany. Mr. Rutsch is rated as an Elite expert by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Arterial Calcification of Infancy, Achondroplasia, Singleton-Merten Syndrome, and Phenylketonuria (PKU).

Sarah C. Contrucci
Experienced in Singleton-Merten Syndrome
Experienced in Singleton-Merten Syndrome

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Familial Short Stature (FSS).

 
 
 
 
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Mark A. Reed
Experienced in Singleton-Merten Syndrome
Podiatric Surgery | Orthopedics
Experienced in Singleton-Merten Syndrome
Podiatric Surgery | Orthopedics

Proliance Surgeons

5350 Tallman Ave NW, Ste 500, 
Seattle, WA 
Experience:
11+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Dr. Mark Reed is a board-certified orthopedic surgeon providing specialty care of all foot and ankle disorders. He treats both adolescents and adults with a special focus on sports-related injuries, including ankle instability, cartilage lesions, and Achilles tendon injuries. He also performs joint replacements and reconstructive surgery for degenerative conditions such as arthritis and tendon dysfunction. In addition, he provides state-of-the-art treatment in the areas of fracture care and sports medicine.Dr. Reed worked for seven years as a mechanical engineer for a contractor to the Department of Defense before changing careers and enrolling in medical school. As an engineer he designed missile guidance systems and was part of the team that developed the jet engine for the F-22 Advanced Tactical Fighter.He earned his medical degree at the University of Alabama School of Medicine. His background in engineering fostered an interest in orthopedics, driving him to an orthopedic surgical residency at the University of Massachusetts. As a chief resident, he was selected as the recipient of the esteemed John J. Monahan award, given to the physician who best embodies patient-centered care.After his general orthopedics training, Dr. Reed was accepted at the Union Memorial Hospital Foot and Ankle Fellowship in Baltimore, Maryland, considered to be one of the most prestigious foot and ankle fellowship programs in the country. He trained under three of the leaders in the foot and ankle community, including the recent president of the American Orthopaedic Foot and Ankle Society, and participated in cutting-edge biomechanical and clinical research during his time in Baltimore.He has undergone advanced training in ankle joint replacement, including the Scandinavian Total Ankle Replacement (STAR) prosthesis, as well as in reconstructive procedures, including bunion, hammertoe, and flatfoot deformity correction.Dr. Reed is excited to join the Seattle medical community and to experience all the Pacific Northwest has to offer. Outside of work, he enjoys spending time with his wife and his three sons. He also enjoys golf, tennis, working out, and spending time outdoors. Dr. Reed is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Synovial Osteochondromatosis, Tendinitis, Freiberg's Disease, and Caffey Disease.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center