Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3330823010
Pacman dysplasia
Active
Synonym
false
false
3330824016
Epiphyseal stippling with osteoclastic hyperplasia syndrome