PHAVER syndrome

PHAVER syndrome is an extremely rare congenital malformation syndrome whose name is an acronym describing its key features: Pterygia (webbing of skin across joints), Heart defects, Autosomal recessive inheritance, Vertebral defects, Ear anomalies, and Radial defects (abnormalities of the radius bone in the forearm). This condition affects multiple body systems simultaneously, presenting at birth with a combination of skeletal, cardiac, and craniofacial abnormalities. The skeletal manifestations include vertebral anomalies (such as fusion or malformation of vertebral bodies), radial ray defects (ranging from hypoplasia to absence of the radius or thumb), and pterygia (webbing) affecting multiple joints including the neck, elbows, and knees. Congenital heart defects are a significant component and may include septal defects or other structural cardiac malformations. Ear anomalies can involve both the external ear structure and hearing impairment. Additional features may include limb contractures and restricted joint mobility. PHAVER syndrome shares clinical overlap with other pterygium syndromes and must be carefully distinguished from conditions such as multiple pterygium syndrome and Escobar syndrome. There is no specific curative treatment for PHAVER syndrome. Management is supportive and multidisciplinary, involving orthopedic interventions for skeletal and joint abnormalities, cardiac surgery for heart defects when indicated, audiological assessment and management for hearing problems, and physical therapy to optimize mobility. Only a small number of cases have been reported in the medical literature, making it one of the rarest described malformation syndromes.

Common questions about PHAVER syndrome