lethal occipital encephalocele-skeletal dysplasia syndrome
MONDO:0013740
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.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to lethal occipital encephalocele-skeletal dysplasia syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
View lethal occipital encephalocele-skeletal dysplasia syndrome on the outbreak map →lethal occipital encephalocele-skeletal dysplasia syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.