Term Name: osteopathia striata with cranial sclerosis
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.
Ontology: Human Disease [DOID:0060886]   ( DOID:0060886 )

Relationships
is a type of: osteosclerosis