Details of Disease

General Information of Disease (ID: DIS6NGOI)

• Disease Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
• Synonyms: RHFCA; radiohumeral fusions with other skeletal and craniofacial anomalies; craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
• Definition: 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.
• Disease Hierarchy:
  DISEUVBK: Syndromic craniosynostosis
  DIS6NGOI: Lethal occipital encephalocele-skeletal dysplasia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013740
  UMLS CUI: C3280729
  OMIM ID: 614416
  MedGen ID: 482359
  Orphanet ID: 293925

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP26B1	DEZT8FM	Limited	Biomarker	[1]
CYP26B1	DEZT8FM	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP26B1	OT92XA92	Strong	Autosomal recessive	[2]

References

• [1] Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. Am J Med Genet A. 2016 Oct;170(10):2706-10. doi: 10.1002/ajmg.a.37804. Epub 2016 Jul 13.
• [2] Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb. Dev Cell. 2004 Mar;6(3):411-22. doi: 10.1016/s1534-5807(04)00062-0.