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Infantile osteopetrosis with neuroaxonal dysplasia
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
ORPHA:85179Classification level: Disorder
It has been described in a brother and a sister born to nonconsanguineous Caucasian parents.
The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described.
The etiology remains unclear.
Autosomal recessive inheritance has been suggested.
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