Singleton-Merten dysplasia

Orpha code: 85191OMIM code: 616298

Definition

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).

Disease data
Classification

Malformation syndrome

Synonyms
Singleton-Merten syndrome
Zespół Singletona i Mertena
ORPHA code
85191
OMIM code
616298
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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