Hydrocephalus-cleft palate-joint contractures syndrome
Other Names for this Disease
- Aase-Smith syndrome I
- Joint contractures with other abnormalities
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Dandy-Walker malformation, cleft palate, and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot. The cause of hydrocephalus-cleft palate-joint contractures syndrome is not known, but it is likely genetic due to reports of affected family members and likely autosomal dominant inheritance. Treatment is specific to the symptoms present in each individual and might include surgical correction of birth defects such as cleft palate and clubfoot.Hydrocephalus-cleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called
Last updated: 6/22/2016
- Victor A. McKusick. AASE-SMITH SYNDROME I. OMIM. 2/20/2014; http://www.omim.org/entry/147800.
- Aase-Smith syndrome. Orphanet. July 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916. Accessed 6/22/2016.
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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.
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