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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