Yunis-Varon syndrome

Yunis-Varon syndrome2016-11-28T13:58:38+00:00

Yunis-Varon syndrome

GENETICS, ORTHOPAEDICS

Definition A severe autosomal recessive disorder (OMIM:216340) characterised by skeletal defects–e.g., cleidocranial dysplasia and digital anomalies, and severe neurologic disease with neuronal loss. It is usually lethal in infancy.

Micro Enlarged cytoplasmic vacuoles in neurons, muscle, and cartilage.

Molecular pathology Defects of FIG4, which encodes a protein with phosphoinositide phosphatase activity, that plays a role in the biogenesis of endosome carrier vesicles/multivesicular bodies transport intermediates from early endosomes, cause Yunis-Varon syndrome.

Synonym Cleidocranial dysplasia with micrognathia—absent thumbs—and distal aphalangia  

References http://www.uniprot.org/uniprot/Q92562

http://www.omim.org/entry/216340 

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.