Osteopathia striata cranial sclerosis [Supplementary Concept]
An X-linked dominant osteosclerosis that presents in females with MACROCEPHALY; CLEFT PALATE, mild LEARNING DISABILITIES; SCLEROSIS of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and SCAPULAE. In males, the disorder usually results in fetal or neonatal lethality; surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability such as deafness due to pressure on cranial nerves. Osteopathia striata is a frequent feature of FOCAL DERMAL HYPOPLASIA. Mutations in the AMER1 gene have been identified. OMIM: 300373
Date introduced: August 25, 2010
MeSH Unique ID: C536053
Heading Mapped to:
Entry Terms:
- Hyperostosis Generalisata with Striations
- Osteopathia Striata with Cranial Sclerosis