Mesomelia-synostoses syndrome

Mesomelia-synostoses syndrome (also known as Verloes-David syndrome or mesomelic dysplasia with acral synostoses) is an extremely rare genetic skeletal disorder characterized by mesomelic limb shortening (shortening of the middle segments of the limbs, i.e., the forearms and lower legs), synostoses (abnormal fusion of bones), and distinctive facial features. The condition is present from birth and affects multiple body systems, primarily the skeletal system. Key clinical features include mesomelic shortening of the limbs, synostosis of the forearm bones (radioulnar synostosis) and tarsal/carpal bones, ptosis (drooping eyelids), a characteristic facial appearance with a broad nasal bridge, and abnormalities of the palate. Additional features may include cardiac malformations, renal anomalies, and hearing loss. Some patients also exhibit intellectual disability. The facial features can include hypertelorism, a depressed nasal bridge, and micrognathia. Mesomelia-synostoses syndrome has been linked to mutations in the SULF1 gene on chromosome 8q13. The condition is inherited in an autosomal dominant pattern, though many cases appear to arise from de novo (new) mutations. There is no specific cure or targeted therapy for this syndrome. Management is supportive and symptomatic, involving orthopedic interventions for skeletal abnormalities, surgical correction of cardiac or renal defects when necessary, hearing aids for hearing loss, and developmental support for those with intellectual disability. A multidisciplinary team approach is recommended for optimal care.

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