Osteopathia striata cranial sclerosis
Other Names for this Disease
- Hyperostosis generalisata with striations
- Osteopathia striata - cranial sclerosis
- Robinow-Unger syndrome
- Osteopathia striata-cranial sclerosis syndrome
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craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the
Last updated: 12/9/2015
- Osteopathia striata - cranial sclerosis. Orphanet. October 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780.
- Quélin C1, Loget P, D'Hervé D, Fradin M, Milon J, Ferry M, Body-Bechou D, Tréguier C, Garcia Hoyos M, Odent S. Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology. Prenat Diagn. February 2015; 35(2):200-202.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopathia striata cranial sclerosis. Click on the link to view a sample search on this topic.