There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.
Ellis–Van Creveld syndrome
Kapur–Toriello syndrome
Li–Fraumeni syndrome
Maroteaux–Lamy syndrome
Coffin–Siris syndrome
Laurence–Moon syndrome
Weismann-Netter–Stuhl syndrome
Letterer–Siwe disease