Aksu von Stockhausen syndrome

Aksu von Stockhausen syndrome is a congenital condition characterized by malformations of the neck resulting from a branchial arch defect. In the neonatal period, affected individuals have been described with unique craniofacial and neck abnormalities, including symmetrical preauricular pits, additional rudimentary auricles behind the ears, a coccygeal groove that ends blindly, a small mouth, and papillomata of the hypopharynx. This condition is extremely rare, with only one family reported to date, and its long‐term course remains unclear. Medical understanding of the syndrome continues to evolve as more information becomes available.

The clinical presentation of Aksu von Stockhausen syndrome is defined by a set of distinctive malformations observed during the neonatal period. Reported features include symmetrical preauricular pits, retroauricular rudimentary auricles, a blindly ending coccygeal groove, microstomia, and papillomata of the hypopharynx. Although these features were documented in the single known case, not all individuals may experience every sign, and the severity of each anomaly can vary widely between individuals.

The precise genetic basis of Aksu von Stockhausen syndrome is currently under investigation, and no specific gene has been identified for this condition. With only one reported case, a clear inheritance pattern has not been established, suggesting that the disorder may result from complex genetic and environmental factors. Given the limited information available, families are encouraged to seek genetic counseling if there are concerns regarding recurrence or implications for future family planning.

Currently, management of Aksu von Stockhausen syndrome focuses on supportive care and symptom management, with no specific treatments available. Care is individualized and typically involves a multidisciplinary team that may include pediatric specialists, craniofacial experts, and other relevant professionals. Patients and families are encouraged to discuss treatment options with their healthcare team to determine the most appropriate strategies for addressing symptoms and improving quality of life.

The long‐term outlook for individuals with Aksu von Stockhausen syndrome remains uncertain given that the syndrome has been reported in only one family. Outcomes vary widely between individuals, and factors such as the severity of the anatomical malformations and access to specialized, multidisciplinary care can influence the overall course. With current standards of care, many individuals benefit from ongoing support that helps manage symptoms, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the condition and to engage in genetic counseling to better understand potential implications for family planning.