Acrocallosal syndrome in Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome

Abstract

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.

NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome

“…In conclusion, we report five novel patients with a spectrum of anomalies compatible with ACLS and confirm the phenotypic variability previously suggested 2 3. Neither corpus callosum anomaly nor polydactyly are constant features, suggesting that the diagnosis might be missed in some patients.…”

A large duplication involving the IHH locus mimics acrocallosal syndrome

“…Although the pattern of inheritance in our family was clearly not recessive, the index patient met the suggested clinical diagnostic criteria for ACS, and despite the absence of hallux duplication, a common feature of ACS, 20 the diagnosis of ACS in the index patient was convincing, also supported by the severe mental retardation and agenesis of the corpus callosum, which is to be found in almost all cases with ACS. 21 However, the extensive syndactyly seen in our patient is a feature more frequently seen in patients with Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700). ACS shows significant overlap with GCPS, and it has been noted that clinical diagnostic criteria are not always sufficient to distinguish between both disorders.…”

Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review

“…Courtens et al [3] recently defined minimal diagnostic criteria (presence of 3 of the 4 following symptoms: absence of the corpus callosum, minor craniofacial anomalies, psychomotor retardation, and polydactyly), which suggests the diagnosis of ACS in our case 2. The clinical features of ACS and XHL are described in the Table 1.…”

“…He had a prominent forehead, polydactyly of the fifth left finger, agenesis of the corpus callosum, second and third left costal defects (costal hypoplasia), and a wide palpebral fissure that was diagonal and down. The 5 fingers led to a diagnosis of ACS [3]. On the day of birth, he vomited after breast milk feeding.…”