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The impact of HD on individual affected persons and the overall burden on health systems is amplified by delayed diagnosis, which increases the risk of patients presenting with HD-related impairments and disabilities [2,3]. Externally, RMS manifests in changes to the facial profile, including: 1) saddle nose, characterized by loss of nasal dorsal height and shortened length of nose, due to cartilaginous and/or bone collapse; 2) concave middle-third of the face with sunken (retracted) nose, caused by erosion of the zygomatic process and enlargement and loss of the pyriform shape of the nasal aperture; 3) reduced maxillary projection (maxillary retrognathia/reduced ANS); 4) inverted upper lip because of reduced maxillary height [19]. Kasai et al. calculated two measures: a ratio of maxillary/cranial anterior-posterior length (MA-P/CA-P) and a ‘maxillary defect’ measure (calculated by subtracting the observed anterior-posterior maxillary length from the observed cranial length multiplied by the mean MA-P/CA-P ratio in the non-HD group, with negative values indicating apparent defective length). Ultimately, future studies must aim to provide benefit to persons affected by HD by improving our understanding of how HD-related bone alterations progress before, during and after treatment, and by suggesting improvements to clinical practice.