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.
MONDO:0015338
syndromic craniosynostosis
is_a
RHFCA
related
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
exact
radiohumeral fusions with other skeletal and craniofacial anomalies
related
SPAC19A8.04