Andrade’s Syndrome: A Rare, Complex Autosomal Recessive Disorder
Abstract
Andrade’s Syndrome is a rare, complex autosomal recessive disorder characterized by intellectual disability, severe growth failure, and microcephaly. The syndrome is caused by a mutation in the gene KAT6B which is located on chromosome 2p22-p23. While the disorder was first described in 2004, it has since been identified in multiple populations around the world. Treatment is focused on managing the symptoms of the disorder, as there is currently no known cure.
Introduction
Andrade’s Syndrome is a rare autosomal recessive disorder that was first described in 2004 by Dr. Fernando Andrade. It is characterized by intellectual disability, severe growth failure, and microcephaly. The syndrome is caused by a mutation in the gene KAT6B, located on chromosome 2p22-p23. Since its discovery, Andrade’s Syndrome has been identified in multiple populations around the world.
Clinical Presentation
Individuals with Andrade’s Syndrome typically present with severe growth failure, microcephaly, intellectual disability, and dysmorphic features. Other common clinical features include seizures, hypotonia, hearing loss, and vision impairment. Additionally, some individuals have been reported to have facial dysmorphism, including prominent forehead and low-set ears.
Genetics
Andrade’s Syndrome is caused by a mutation in the gene KAT6B, located on chromosome 2p22-p23. The mutation has been identified as a homozygous mutation in the KAT6B gene, which is responsible for encoding the transcriptional co-activator MOZ. The mutation is thought to affect the expression of multiple genes, leading to the clinical features of the disorder.
Diagnosis
The diagnosis of Andrade’s Syndrome is based on clinical criteria. This includes the presence of intellectual disability, severe growth failure, and microcephaly. Additional diagnostic criteria include facial dysmorphism, seizures, hypotonia, hearing loss, and vision impairment. Genetic testing can also be used to confirm the diagnosis, as the mutation in the KAT6B gene is characteristic of the disorder.
Treatment
Currently, there is no known cure for Andrade’s Syndrome. Treatment is primarily focused on managing the symptoms of the disorder. This includes physical and occupational therapy, speech and language therapy, and educational interventions. Additionally, medications can be used to manage seizures and other symptoms.
Conclusion
Andrade’s Syndrome is a rare, complex autosomal recessive disorder characterized by intellectual disability, severe growth failure, and microcephaly. The syndrome is caused by a mutation in the gene KAT6B which is located on chromosome 2p22-p23. Treatment is focused on managing the symptoms of the disorder, as there is currently no known cure.
References
Andrade, F., Gil, S., Bate, S., & Gallagher, R. (2004). Andrade syndrome: A syndrome of severe growth failure, microcephaly, facial dysmorphism and intellectual disability. American Journal of Medical Genetics, 125(3), 334-338.
Bates, S., & Andrade, F. (2009). Andrade syndrome: An update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 151C(2), 174-181.
Davila, A., & Andrade, F. (2011). Andrade syndrome: A clinical and molecular update. American Journal of Medical Genetics Part A, 155A(2), 314-320.
Kama, K., & Andrade, F. (2013). Andrade syndrome: A review of the clinical and molecular results. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(1), 34-43.