Finding the Genetic Diagnosis for a Mother and Daughter With a Novel Phenotype of Hand and Foot Abnormalities and Severe Pectus Excavatum Previously Reported in Am J Med Genet Part A by Low K et al. (2013)

We read with great interest the article by Low et al. (2013) describing a mother and daughter with index and middle finger hyperphalangism, short ulnar deviated index fingers, broad valgus deviated halluces, pectus excavatum, tracheomalacia, and facial dysmorphism. There was no genetic diagnosis at the time of publication. The mother and daughter were subsequently reviewed by Wessex Clinical Genetics Service, University Hospital Southampton in 2025. Duo Whole Genome Sequencing identified the recurrent ERF variant c.266A > G p.(Tyr89Cys) that causes Chitayat Syndrome, as described by Balasubramanian et al. (2017). Interestingly, this paper made reference to our mother-daughter pair. First described by Chitayat et al. (1993), Chitayat Syndrome is characterized by hyperphalangism, characteristic facies, hallux valgus, and bronchomalacia. Similar to our patients, Balasubramanian et al. (2017) described pectus excavatum in all of their ERF Chitayat patients. This result provides a genetic explanation for the clinical history and dysmorphology in mother and daughter. I attach some more recent photographs as shown in Figure 1. We felt that readers may be interested in the outcome following the initial publication in AJMG in 2013, particularly as the characteristic dysmorphology associated with this condition is readily recognizable and may aid diagnosis in similar cases. The authors declare no conflicts of interest. Data sharing not applicable to this article as no datasets were generated or analysed during the current study.