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Hair whorls and handedness: informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives.

Scott NM, Weinberg SM, Neiswanger K, Brandon CA, Marazita ML

Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, PA 15219, USA.

Cleft lip with or without cleft palate (CL/P) is a complex disorder with a range of phenotypic manifestations and a birth prevalence that varies by population (1/500-1/2,000). Investigators have postulated that CL/P cases may have abnormal brain development, citing structural brain differences, and cognitive impairments in affected individuals. Previously, increased levels of non-right handedness (NRH), a marker for abnormal brain lateralization, have also been demonstrated in CL/P cases. Atypical hair whorls, more direct markers of altered brain development, may be related to NRH. To date, neither hair whorl patterns nor their relationship to NRH have been studied in a CL/P population. In the current study, we investigate the hypothesis that altered brain development is part of the phenotypic spectrum of NS CL/P by assessing NRH and atypical hair whorls in CL/P families. The study population included 49 nonsyndromic CL/P cases and 116 of their unaffected relatives; 21.8% of the study population was NRH compared to the 10% population estimate (P < 0.0001). Counter-clockwise hair whorls (CCW) were found in 12.7% of all subjects compared to a population rate of 9.9 %. Of all subjects, 11% of the NRH individuals had CCW, which was similar to the frequency of CCW in right-handed individuals. Approximately 80% of the whorls were placed on either the right or center of the scalp. No significant associations were found between the type of cleft and handedness, hair whorl rotation, or placement. These results suggest that certain phenotypic markers of abnormal brain development may comprise part of the extended phenotype of orofacial clefting.

Published 29 June 2005 in Am J Med Genet A, 136(2): 158-61.
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