Intellectual disability-developmental delay-contractures syndrome
Other Names for this Disease
- Contractures of feet, muscle atrophy, and oculomotor apraxia
- Apraxia, oculomotor, with congenital contractures and muscle atrophy
- Wieacker Wolff syndrome
- Foot contractures-muscle atrophy-oculomotor apraxia
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arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (
Last updated: 1/28/2016
- Annick Toutain. Wieacker Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/wieacker-syndrome/.
- Intellectual disability-developmental delay-contractures syndrome. orpha.net. January 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3454.
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