Acrocallosal syndrome

Acrocallosal syndrome (ACLS), also known as Schinzel acrocallosal syndrome, is a rare congenital malformation disorder characterized by the combination of agenesis or hypoplasia of the corpus callosum, craniofacial anomalies, polydactyly, and intellectual disability. The condition affects multiple body systems, most prominently the central nervous system and the skeletal system. Key neurological features include total or partial absence of the corpus callosum (the structure connecting the two brain hemispheres), which is reflected in the ICD-10 classification under Q04.0 (congenital malformations of the corpus callosum). Affected individuals typically present with moderate to severe intellectual disability, seizures, and motor developmental delays. Craniofacial features may include macrocephaly, a prominent forehead, hypertelorism (widely spaced eyes), and a short nose with anteverted nares. Skeletal manifestations are a hallmark of the syndrome and most characteristically include postaxial polydactyly of the hands and feet, and sometimes preaxial polydactyly of the feet (hallux duplication). Additional features can include hypotonia, growth retardation, and less commonly, cardiac or genitourinary anomalies. The syndrome has been linked to mutations in the KIF7 gene (on chromosome 15q26.1) and, in some cases, the GLI3 gene, both of which are involved in the Hedgehog signaling pathway, a critical pathway for embryonic development. Inheritance is autosomal recessive when caused by KIF7 mutations. There is currently no cure or disease-specific treatment for acrocallosal syndrome. Management is supportive and multidisciplinary, focusing on the individual's specific symptoms. This may include antiepileptic medications for seizure control, surgical correction of polydactyly, physical and occupational therapy for motor delays, speech therapy, and special educational support. Regular monitoring by neurology, orthopedics, and developmental specialists is recommended. Early intervention programs can help optimize developmental outcomes, though intellectual disability is typically a persistent feature of the condition.

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

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