What are the symptoms of Singleton Merten syndrome ?
What are the signs and symptoms of Singleton Merten syndrome? Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and/or progressive thinning and loss of protein of the bones (osteoporosis). Between the ages of four to 24 months, most affected infants experience generalized muscle weakness and loss or wasting away (atrophy) of muscle tissue. In approximately half of the reported cases, these symptoms begin after an episode of illness associated with a fever. Affected infants may also show delays in general physical development, possibly resulting in short stature or delays in the ability to coordinate muscles and perform certain tasks (motor development). Abnormalities affecting the teeth also occur at an early age in individuals with Singleton Merten syndrome. Affected infants may develop cavities and lose their primary teeth prematurely. Certain permanent teeth may not develop or may erupt late; those permanent teeth that do develop are usually malformed. In some cases, permanent teeth may also be lost prematurely. By late infancy or early childhood, affected individuals may experience symptoms associated with the progressive accumulation of calcium deposits (calcifications) in the aorta and on certain valves of the heart. The aorta arises from the lower pumping chamber of the heart (left ventricle) and supplies oxygen-rich blood to all the arteries of the body (excluding the pulmonary artery). In individuals with Singleton Merten Syndrome, calcifications form in the portion of the aorta nearest the heart (proximal thoracic aorta). The accumulation of calcium deposits is progressive and typically causes blockage and narrowing of the aorta (called calcific aortic stenosis), obstructing the flow of oxygenated blood. In some cases, abnormal calcium deposits may also develop around the valve on the left side of the heart (mitral valve calcification). As a result of calcification of these various structures, affected individuals may experience high blood pressure (hypertension); abnormal transmission of electrical impulses (conduction) that coordinate the activity of the heart muscle (heart block); abnormal contractions of the heart (systolic murmurs); and/or abnormal enlargement of the heart (cardiomegaly). By late adolescence, the heart may be unable to pump blood effectively, causing heart failure and leading to life-threatening complications. Infants with Singleton Merten syndrome may also experience abnormal thinning and weakness of the bones (osteoporosis). As a result, bones are frequently brittle and may fracture easily. Osteoporosis may occur in the skull and the long bones of the arms and legs, but is most prominent in the bones of the hands and fingers. Other findings associated with Singleton Merten syndrome may include malformations of the hips and feet that may occur due to muscle weakness; wearing away (erosion) of the bones in the tips of the fingers (terminal phalanges); and/or a chronic skin condition characterized by red, thick, scaly patches of skin (psoriasiform skin eruption). In some cases, affected individuals may have abnormal accumulation of pressure of the fluid of the eye (glaucoma) and/or abnormal sensitivity to light (photosensitivity). The Human Phenotype Ontology provides the following list of signs and symptoms for Singleton Merten syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic arch calcification - Aortic valve calcification - Aortic valve stenosis - Autosomal dominant inheritance - Broad forehead - Cardiomegaly - Carious teeth - Congestive heart failure - Coxa valga - Cutaneous photosensitivity - Decreased body weight - Expanded metacarpals with widened medullary cavities - Expanded metatarsals with widened medullary cavities - Expanded phalanges with widened medullary cavities - Genu valgum - Glaucoma - High anterior hairline - Hip dislocation - Hip Subluxation - Hypoplasia of the maxilla - Hypoplasia of the tooth germ - Hypoplastic distal radial epiphyses - Mitral valve calcification - Muscle weakness - Muscular hypotonia - Myopia - Onycholysis - Osteolytic defects of the phalanges of the hand - Osteoporosis - Pes cavus - Recurrent respiratory infections - Shallow acetabular fossae - Short stature - Smooth philtrum - Subaortic stenosis - Talipes equinovarus - Tendon rupture - Unerupted tooth - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Singleton Merten syndrome