Autosomal recessive hereditary disorder
Congenital disease
Hereditary disorder of musculoskeletal system
Osteolysis
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Pacman dysplasia (disorder)
Pacman dysplasia
Epiphyseal stippling with osteoclastic hyperplasia syndrome
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.
Pacman-dysplasie
Id722127006
StatusPrimitive
Associated morphologyOsteolysis
Finding siteBone structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified