Aymé-Gripp syndrome

Aymé-Gripp syndrome (also known as fine-lubinsky syndrome in older literature, though now recognized as a distinct entity) is an extremely rare genetic disorder caused by pathogenic variants in the MAF gene (also known as c-MAF). It is characterized by a combination of sensorineural hearing loss, cataracts, intellectual disability, seizures, and distinctive craniofacial features. The syndrome affects multiple body systems including the central nervous system, eyes, ears, and skeletal system. Key clinical features include a flat midface, short nose, thin upper lip, brachycephaly, and low-set ears. Affected individuals frequently present with sensorineural hearing loss that can range from moderate to profound, as well as cataracts or other eye abnormalities. Neurological involvement includes developmental delay, intellectual disability of variable severity, and seizures in some patients. Skeletal anomalies such as short stature, reduced bone density, and joint laxity may also be present. Some patients have been reported with cardiac defects and renal anomalies. There is currently no cure or disease-specific treatment for Aymé-Gripp syndrome. Management is supportive and multidisciplinary, focusing on addressing individual symptoms. This may include hearing aids or cochlear implants for hearing loss, surgical intervention for cataracts, antiepileptic medications for seizures, and early intervention programs including speech therapy, physical therapy, and special education services to optimize developmental outcomes. Regular monitoring by ophthalmology, audiology, neurology, and other relevant specialists is recommended.

Common questions about Aymé-Gripp syndrome