arthrogryposis multiplex congenita-whistling face syndrome

Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare condition that primarily affects joint mobility and facial structure. It is characterized by multiple joint contractures and a distinctively small, whistling-shaped mouth that can lead to feeding, swallowing, and speech challenges. The condition typically presents at or shortly after birth with severe developmental delays and central as well as autonomic nervous system dysfunction. Given its very rare occurrence, it affects fewer than one in a million individuals.

Affected infants present with multiple joint contractures that limit movement and a markedly reduced mouth opening resulting in a whistling appearance. They may experience significant feeding difficulties, challenges with swallowing and speech, and display an expressionless facial appearance. In addition, central and autonomic nervous system involvement is evident through symptoms such as excessive salivation, temperature instability, myoclonic epileptic fits, and bradycardia, and in some cases, features of Pierre-Robin sequence are observed. Not all individuals experience all features, and severity varies considerably.

The precise genetic basis of arthrogryposis multiplex congenita-whistling face syndrome is under investigation. It is known to be inherited in an autosomal recessive pattern, which means an affected individual has received a copy of the genetic alteration from each parent. This condition is more common when parents share a common ancestor. Because this condition requires inheriting two copies of the genetic change, it may occur more frequently in families where parents share common ancestry, increasing the chance that both parents carry the same rare genetic variant. Genetic counseling can provide valuable guidance for families regarding inheritance and family planning.

Currently, management focuses on supportive care and symptom relief using a multidisciplinary approach tailored to the individual’s needs. Treatment strategies may include interventions to help with feeding difficulties, dedicated physical therapy to optimize mobility, and careful management of neurological symptoms. Patients and families are advised to discuss treatment options with their healthcare team and to consider genetic counseling to further understand the condition and explore supportive resources.

Arthrogryposis multiplex congenita-whistling face syndrome is typically associated with a severe clinical course, with lethality generally occurring during the first months of life. However, outcomes vary depending on the severity of individual symptoms and the overall health status of the affected infant. With current standards of care, improvements in supportive management may offer some benefit, though the condition remains life‐threatening in its most severe forms. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with genetic counselors and specialist care teams for guidance.