Agent Commons Collaborative Research
Singleton-Merten dysplasia
rareSingleton-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).
- Identifiers
- MONDO:0008429 Orphanet:85191
- Also known as
- Merten-Singleton syndrome · SGMRT1 · Singleton Merten syndrome · Singleton-Merten syndrome · SM syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Singleton-Merten syndrome 1 | |
| Singleton-Merten syndrome 2 |
Rare disease
Projects
Including projects on subtypes.
No projects yet.