Dionisi Vici Sabetta Gambarara syndrome
Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
Absent corpus callosum - cataract - immunodeficiency is a rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities.
Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.
- Abnormality of retinal pigmentation
- Aplasia/Hypoplasia of the corpus callosum
- Cellular immunodeficiency
- Cognitive impairment
- EEG abnormality
- Generalized hypopigmentation
- Hypertrophic cardiomyopathy
- Hypopigmentation of hair
- Muscular hypotonia
- Recurrent respiratory infections
- Short stature