Acrocallosal syndrome

Acrocallosal syndrome is a rare genetic disorder characterized by macrocephaly (an abnormally large head), absence of the corpus callosum (the bundle of nerve fibers connecting the two hemispheres of the brain), severe mental retardation, postaxial polydactyly (extra fingers or toes on the outer side of the hand or foot), and hallux duplication (an extra toe on the big toe side of the foot). It is typically diagnosed after birth.From: Fetal and Perinatal Skeletal Dysplasias [2012], Atlas of Fetal MRI [2019]

Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

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Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012

Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow

Other conditions caused by GLI3 mutations: cephalopolysyndactyly syndrome (Greig) (p. 494). Acrocallosal syndrome: macrocephaly, absence of corpus callosum, severe mental retardation, postaxial polydactyly, hallux duplication. GLI3 mutations have been found in a minority of cases.

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

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Published in Annals of Medicine, 2021

Xiaomei Shi, Hui Tang, Jian Lu, Xiue Yang, Hongke Ding, Jing Wu

A wide spectrum of genetic disorders has been reported in association with omphalocele. These disorders, such as Donnai–Barrow syndrome, acrocallosal syndrome and hydrolethalus syndrome, are not detected by either CMA or karyotype and are likely to explain a significant portion of unexplained cases. It may be reasonable to consider exome sequencing as the next step when standard genetic tests do not yield a diagnosis. A recent report shows the prenatal use of WES in diagnosing Donnai–Barrow syndrome in the setting of omphalocele and associated anomalies [17]. In our study, WES was performed to identify possible causal variants in three non-isolated omphalocele cases, and one pathogenic variant was successfully identified. Thus, WES should be a part of the diagnostic workup for any euploid foetus with non-isolated omphalocele, particularly if abnormal pregnancies have occurred repeatedly, as in our case.

Acrocallosal syndrome

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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing