Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare genetic syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment macrocephaly hypotonia dysmorphic facial features (including long face slanting palpebral fissures and prominent flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis finger clinodactyly pes planus) slender build and shy behavior. Strabismus and various neurological signs (including ataxia tremor and hyperreflexia) may be associated as well as epilepsy autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Macrocephaly-intellectual disability-left ventricular non compaction syndrome?
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