osteosclerotic metaphyseal dysplasia

info · Genetic

A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26.

Signs and symptoms

Hyporeflexia
Sclerotic vertebral endplates
Global developmental delay
Hypotonia
Failure to thrive
Dense metaphyseal bands
Metaphyseal dysplasia
Clavicular sclerosis
Seizure
Elevated circulating alkaline phosphatase concentration