Osteopetrosis and infantile neuroaxonal dystrophy

(OMIM phenotype number #600329)

Osteopetrosis and infantile neuroaxonal dystrophy is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. There are rare cases reported with the association of neuroaxonal dystrophy and osteopetrosis. Autosomal recessive inheritance has been suggested and the etiology remains unclear.

Phenotype

Severe form, see OPTB1 phenotype, infantile osteopetrosis, infantile death, infantile neuroaxonal dystrophy, agenesis of corpus callosum, cerebral atrophy, and small hippocampus.

Other resource

Osteopetrosis Society (OPETS)

References

  1. Rees H, Ang LC, Casey R. Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. Pediatr Neurosurg. 1995;22(6):321-7.
  2. De Vernejoul MC, Kornak U. Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Ann N Y Acad Sci. 2010 Mar;1192:269-77.
  3. Masi L, Agnusdei D, Bilezikian J et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Jun 13.
  4. http://www.omim.org