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