Singleton-Merten dysplasia
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0957408
type 1 interferonopathy of childhood
is_a
Merten-Singleton syndrome
exact
SGMRT1
related
SM syndrome
related
Singleton Merten syndrome
exact
Singleton-Merten syndrome
exact
singleton Merten syndrome
exact
syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
related
widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness
related