Overview
Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by agenesis of the corpus callosum, craniofacial anomalies, polydactyly, and severe psychomotor retardation 12.Diagnosis
Key Diagnostic Criteria: Agenesis of corpus callosum, craniofacial dysmorphism, polydactyly (preaxial and postaxial), and psychomotor retardation 12.
Recommended Tests: Prenatal ultrasound for postaxial polydactyly and absence of corpus callosum 1.
Additional Findings: Commonly associated with intracranial cysts, particularly arachnoid cysts 2.
Differentiating Features: Presence of intracranial cysts can help differentiate ACS from Greig cephalopolysyndactyly syndrome 2.Management
Supportive Care: Focus on managing seizures, hypotonia, and developmental delays 6.
Early Intervention: Early initiation of physical, occupational, and speech therapy 6.
Genetic Counseling: Essential for families with affected individuals, especially regarding recurrence risks 1.
Monitoring: Regular neurological assessments to manage complications like epilepsy 6.Special Populations
Pregnancy: Prenatal diagnosis possible via ultrasound for key features like polydactyly and corpus callosum absence 1.
Pediatrics: Early diagnosis crucial for initiating supportive therapies and genetic counseling 16.Key Recommendations
Precise Diagnosis in Dysmorphic Syndromes: Pediatricians should aim for accurate diagnosis of dysmorphic features and mental retardation to enable prenatal diagnosis in subsequent pregnancies (Evidence: Moderate 1).
Genetic Counseling for Affected Families: Offer comprehensive genetic counseling to families with ACS to assess recurrence risks and inform future pregnancies (Evidence: Expert opinion 1).
Monitor for Intracranial Cysts: Regular neuroimaging to detect intracranial cysts, which are common in ACS and can influence prognosis (Evidence: Moderate 2).References
1 Bijarnia S, Baijal A, Verma IC. Genetic counseling in acrocallosal syndrome. Indian journal of pediatrics 2003. link
2 Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S. Spectrum of the acrocallosal syndrome. American journal of medical genetics 2002. link
3 Lurie IW, Naumchik IV, Wulfsberg EA. The acrocallosal syndrome: expansion of the phenotypic spectrum. Clinical dysmorphology 1994. link
4 Sueldo G, Fernandes MC. Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome?. American journal of medical genetics 1993. link
5 Pfeiffer RA, Legat G, Trautmann U. Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Annales de genetique 1992. link
6 Thyen U, Aksu F, Bartsch O, Herb E. Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Neuropediatrics 1992. link
7 Lungarotti MS, Marinelli D, Mezzetti D, Caputo N, Calabro A. Acrocallosal syndrome: a new case. American journal of medical genetics 1991. link
8 Hendriks HJ, Brunner HG, Haagen TA, Hamel BC. Acrocallosal syndrome. American journal of medical genetics 1990. link