osteopathia striata with cranial sclerosis (DOID:0060886)
Alliance: disease page
Synonyms: hyperostosis generalisata with striations; Robinow-Unger syndrome
Alt IDs: OMIM:300373, MESH:C536053, ORDO:2780, UMLS_CUI:C0432268
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.