Singleton-Merten syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords: Merten-Singleton syndrome
Overview
Singleton Merten syndrome is an extremely rare, multisystem disorder. It is a syndrome of widened medullary cavities of the metacarpals and phalanges, aortic valve calcification and abnormal dentition.
Pathophysiology
Singleton Merten syndrome appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested.
Pathology
The major characteristics are
- Tooth abnormalities (dental dysplasia)
- Calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves)
- Progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull.
- Skin conditions
- Malformation of the hips and/or feet
- Growth delay
- Delays in motor development
Diagnosis
Symptoms
- Generalized muscle weakness
Physical Examination
Extremities
- Generalized muscle weakness
- Muscle atrophy
Treatment
Treatment is typically directed toward the specific symptoms that are present in each individual.