OMIM

Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011). (122860)

MalaCards based summary

Craniodiaphyseal Dysplasia, Autosomal Dominant, also known as schaefer stein oshman syndrome, is related to schaefer stein oshman syndrome and craniodiaphyseal dysplasia, and has symptoms including headache, macrocephaly and hypertelorism. An important gene associated with Craniodiaphyseal Dysplasia, Autosomal Dominant is SOST (Sclerostin). Affiliated tissues include bone.

UniProtKB/Swiss-Prot

Craniodiaphyseal dysplasia autosomal dominant: A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients.