Yunis-Varon syndrome

A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infa

A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.

Signs and symptoms

• Parietal bossing
• Hypoplastic scapulae
• Tapered finger
• Aplasia/Hypoplasia of the hallux
• Low-set ears
• Upslanted palpebral fissure
• Clinodactyly
• Cerebellar vermis hypoplasia
• Thin vermilion border
• Severe global developmental delay

Also known as: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; cleidocranial dysplasia-micrognathia-absent thumbs syndrome