Periodontal Ehlers-Danlos syndrome Periodontal EDS (pEDS) causes dental problems, particularly inflamed or absent gums and poor tooth development, on top of typical features of cEDS. It is rare but can be inherited from one parent only, as only one faulty gene is needed to develop the condition.
Ribs 1, 2, 11 and 12 can be describes as âatypicalâ â they have features that are not common to all the ribs. Rib 1 is shorter and wider than the other ribs. It only has one facet on its head for articulation with its corresponding vertebrae (there isnât a thoracic vertebrae above it).
Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy.ndividuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. The myopathic form is the least severe type of CPT II deficiency.