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GTR Home > Conditions/Phenotypes > Lethal occipital encephalocele-skeletal dysplasia syndrome

Lethal occipital encephalocele-skeletal dysplasia syndrome

Synonyms
Radiohumeral fusions with other skeletal and craniofacial anomalies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CYP26A2, P450RAI-2, P450RAI2, RHFCA, CYP26B1
    Summary: cytochrome P450 family 26 subfamily B member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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