Details of Disease

General Information of Disease (ID: DISGV1RL)

• Disease Name: Acrofacial dysostosis Rodriguez type
• Synonyms: acrofacial dysostosis, Rodrguez type; Rodriguez lethal acrofacial dysostosis syndrome; acrofacial dysostosis syndrome of Rodriguez; acrofacial dysostosis, syndrome of Rodriguez
• Definition: Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.
• Disease Hierarchy:
  DISNBM5T: Acrofacial dysostosis
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISGV1RL: Acrofacial dysostosis Rodriguez type
• Disease Identifiers:
  MONDO ID: MONDO_0008714
  MESH ID: C538183
  UMLS CUI: C1860119
  OMIM ID: 201170
  MedGen ID: 349730
  Orphanet ID: 1788
  SNOMED CT ID: 720430002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SF3B4	OTGB9OR9	Supportive	Autosomal dominant	[1]

References

• [1] Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. Am J Med Genet A. 2016 Dec;170(12):3133-3137. doi: 10.1002/ajmg.a.37946. Epub 2016 Sep 19.