Arachnodactyly-abnormal ossification-intellectual disability syndrome
Synonyms: Kosztolanyi syndrome
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification frontal bossing flat calvaria shallow deformed orbits resulting in exophtalmos midface hypoplasia and micrognathia) feeding difficulties in infancy infantile muscular hypotonia and developmental delay leading to intellectual disability.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Arachnodactyly-abnormal ossification-intellectual disability syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
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