| Disease ID | Source | Name | Description |
| 612289 | OMIM | Fontaine progeroid syndrome (FPS) | An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients. The disease is caused by variants affecting the gene represented in this entry. |