Synonyms: Pacman dysplasia
A rare primary bone dysplasia characterized by extensive epiphyseal tarsal spinal and sometimes metacarpal and/or phalangeal stippling severe generalized osteopenia vertebral clefting platyspondyly bowing and shortening of the long bones and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant multinucleated osteoclasts lining Howship lacunae consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Epiphyseal stippling-osteoclastic hyperplasia syndrome?
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Advocacy Organizations
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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