Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele calvarial mineralization defects craniosynostosis radiohumeral fusions oligodactyly and other skeletal anomalies (arachnodactyly terminal phalangeal aplasia of the thumbs bilateral absence of the great toes pronounced bilateral angulation of femora shortened limbs advanced osseous maturation). Fetal death in utero is associated.
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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Lethal occipital encephalocele-skeletal dysplasia syndrome?
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