Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome (also known as Gorlin-Cervenka syndrome or Cervenka syndrome) is an extremely rare genetic condition characterized by the combination of sensorineural hearing loss, genital anomalies, and bony fusion (synostosis) of the metacarpal and metatarsal bones in the hands and feet. The syndrome affects multiple body systems, primarily the auditory system, the skeletal system, and the urogenital system. Key clinical features include congenital sensorineural deafness, which may range from moderate to severe, abnormalities of the genitalia (such as hypospadias or cryptorchidism in males), and radiographic evidence of fusion between the fourth and fifth metacarpal and/or metatarsal bones. Additional skeletal anomalies may also be present. The condition has been described in only a very small number of families in the medical literature, making it one of the rarest syndromic forms of hearing loss. Because of its extreme rarity, the natural history and full phenotypic spectrum of this syndrome remain incompletely characterized. There is currently no specific curative treatment for this condition. Management is supportive and multidisciplinary, involving audiological intervention (such as hearing aids or cochlear implants), surgical correction of genital anomalies when indicated, and orthopedic evaluation for skeletal manifestations. Genetic counseling is recommended for affected families.

Common questions about Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome