osteopathia striata with cranial sclerosis

Term ID

DOID:0060886

Synonyms

• hyperostosis generalisata with striations
• Robinow-Unger syndrome

Definition

An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. https://www.ncbi.nlm.nih.gov/pubmed/19079258

References

• MESH:C536053
• OMIM:300373
• ORDO:2780
• SNOMEDCT_US_2023_03_01:254129003
• UMLS_CUI:C0432268

Ontology

Human Disease   ( DOID:0060886 )