OrphaNet reference

Craniodiaphyseal dysplasia 

May Cause

Absent paranasal sinus

Broad tubular bones

Calvarial hyperostosis

Choanal atresia

Choanal stenosis

Clavicular lesion in an infant or child

Congenital hydrocephalus

Congenital macrocephaly

Congenital prognathism

Congenital widespread osteosclerosis

Cranial nerve paresis or paralysis

Craniotubular dysplasia

Dense or thick skull

Diffusely dense skull base

Erlenmeyer flask deformity

Frontal bossing

Hydrocephalus

Hypoplastic paranasal sinus

Macrocephaly

Multiple opaque jaw lesions

Multiple sclerotic foci in an infant or child

Osteosclerosis

Sclerosing bone dysplasia

Small foramen magnum

Symmetrical anterior rib flaring

Thick clavicle

Thick ribs

Thick skull

Thick tubular hand bones

Underdeveloped mastoid

Underdevelopment of mastoids

Wide diametaphysis

Wide metaphysis

Widespread cortical bone thickening

Widespread predominantly cortical osteosclerosis