Robinow-Sorauf syndrome

Robinow-Sorauf syndrome is an extremely rare genetic disorder now generally considered to be a variant of Saethre-Chotzen syndrome (acrocephalosyndactyly type III). It is caused by mutations in the TWIST1 gene and is characterized by craniosynostosis (premature fusion of skull sutures), which leads to an abnormally shaped skull (acrocephaly or turribrachycephaly). Key craniofacial features include a broad forehead, hypertelorism (widely spaced eyes), and facial asymmetry. A hallmark feature that distinguishes this condition from classic Saethre-Chotzen syndrome is the presence of bifid (duplicated) great toes, along with broad thumbs. Cutaneous syndactyly (webbing of the fingers or toes), particularly between the second and third fingers, is also commonly observed. The syndrome primarily affects the skeletal system, including the skull, hands, and feet. Additional features may include short stature, brachydactyly (short fingers), and mild to moderate intellectual disability in some cases. Craniofacial abnormalities can lead to increased intracranial pressure if not addressed, and some patients may experience hearing loss or dental anomalies. Treatment is primarily surgical and supportive. Craniosynostosis typically requires surgical correction in infancy or early childhood to relieve intracranial pressure and improve skull shape. Surgical correction of limb anomalies such as syndactyly may also be performed. Long-term management involves multidisciplinary follow-up including craniofacial surgery, ophthalmology, audiology, and developmental assessments. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern.

Common questions about Robinow-Sorauf syndrome