Acropectorovertebral dysplasia

Acropectorovertebral dysplasia, also known as F syndrome or Acropectorovertebral syndrome, is a rare congenital malformation syndrome primarily affecting the skeletal system. The condition was first described by Dundar et al. and is characterized by a distinctive combination of limb, chest, and spinal anomalies. Key features include fusion of the fingers and toes (syndactyly), particularly involving a characteristic fusion pattern in the hands that may resemble a mitten-like appearance, along with preaxial polydactyly (extra digits on the thumb side). Chest wall abnormalities, including pectus carinatum or other sternal malformations, and vertebral segmentation defects affecting the spine are also hallmark features of the condition. The skeletal abnormalities are present from birth and may vary in severity even among affected members of the same family. Additional features can include carpal and tarsal bone fusions, synostosis (abnormal bony fusion) of various bones, and spina bifida occulta. The upper limbs tend to be more severely affected than the lower limbs. Intelligence and cognitive development are typically normal in affected individuals. There is no specific cure or targeted therapy for acropectorovertebral dysplasia. Management is primarily supportive and symptomatic, focusing on orthopedic interventions. Surgical correction of syndactyly and polydactyly may be performed to improve hand function and appearance. Spinal abnormalities may require monitoring and, in some cases, orthopedic management to prevent complications such as scoliosis. Genetic counseling is recommended for affected families given the hereditary nature of the condition.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Acropectorovertebral dysplasia