In the paleopathological literature, one of the most frequently recorded physical characteristics, which might be indicative of a rare disease, is short stature [3]. At present, 44 entries for diseases connected with short stature can be found in the DAARD (Fig. 1) (last update January 27, 2024). The list of diagnoses thus far includes achondroplasia (n = 30), hypopituitarism (n = 9), trisomy (n = 3) and Turner syndrome (n = 2). The oldest of these cases is the already mentioned individual from Romito, Italy [1] who was diagnosed with chondrodystrophic dysplasia. The youngest case of short stature is of a person who died in 1959 in Washington, D.C., USA, and whose skeleton is curated at the Robert J. Terry Anatomical Collection. His short stature is diagnosed as hypopituitarism [10]. The DAARD also includes other diseases that can lead to short stature, e.g., Albright Hereditary Osteodystrophy, but cases of these diseases are not yet included in the database.
When opening the DAARD, all individuals affected by a rare disease are identified by colored dots on the world map, with each disease highlighted by a different color. The different colors of each disease can be found in the legend, which provides an immediate overview of the distribution of a specific disease around the world.
The most frequently reported cause of short stature in archaeological human remains is achondroplasia, for which 30 entries are currently available in the database (Fig. 1). Targeted queries on various aspects and research questions about individuals affected by achondroplasia can be initiated by using filter settings. For instance, choosing additional filter criteria enables us to display or hide certain characteristic criteria, such as age groups, a particular biological sex, or entire temporal categories. Furthermore, numerous other attributes can be filtered, such as skeletal characteristics, place of origin (archeological site), or place of curation, e.g., collections in museums or research institutions. The ability to selectively query specific aspects significantly expedites literature research, as the database compiles all registered cases, allowing for direct use of data and easy extraction of basic information about specific diseased individuals from the database attribute table.
Entering data into the designated form facilitates the transfer of data into the defined terminology, ensuring standardization and enabling a refined search for specific terms. This approach is also possible for papers in languages other than English, as their contents can be translated into English and then added to the database.
Most of the achondroplasia cases (Fig. 1) that were identified in the database originated from excavations in Egypt (n = 6/30). The second largest group included individuals who were almost equally distributed across Europe (n = 16/30). Only eight individuals were found in non-European locations, five were from North America, two from Asia, and one was from South America. This picture does not reflect the actual geographical distribution of the disease; rather, it indicates research gaps visible in the underrepresentation of some geographical areas where few or no archaeological projects have been conducted thus far. Therefore, the DAARD may help to identify research gaps and support the selection of new research projects and strategies for researchers worldwide.
The DAARD offers several tools to support geographically and historically wide-ranging research questions, such as comparative views of tables, graphs (Fig. 2) and skeletal diagrams. For the latter, the available bones are schematically colored in different shades of gray (light gray: < 75% preserved, dark gray: > 75% preserved), and the affected bones are marked in red (Fig. 3). In this way, data on preservation of several skeletons can be compiled and provide an immediate overview of post-depositional biases, distinguishing skeletal areas that are simply not preserved from those that are actually not affected (Fig. 3). This tool is particularly useful when dealing with diseases that can affect different parts of the skeleton, allowing for the targeted selection of individuals of interest. The compilation of skeletal diagrams can be downloaded directly from the DAARD and used as comparative illustrations for publication (Fig. 3).
The morphological changes associated with each disease are stored in the backend and can be chosen when entering a new case. This enables a search and comparison of the data. For example, it is possible to search for certain cases of this disease as well as for certain morphological traits, such as a depressed nasal bridge or other typical features of achondroplasia.
For instance, when comparing the six Egyptian individuals in the DAARD, it became evident that only four individuals exhibited macroscopic features of macrocephaly (Fig. 3). In the two Old Kingdom individuals, cranial involvement was notably absent, which is rather atypical for the clinical manifestation of achondroplasia. Conversely, limb involvement is consistently observed in all individuals where limbs are present. A comprehensive understanding of the distinctions and commonalities among individuals is achievable only through a meticulous comparison of cases within the DAARD. Therefore, the DAARD serves as a crucial foundation and source of information for subsequent research endeavors.
Research methodology might provide additional information of interest to scientists. In each case, it is indicated whether only macroscopic methods have been applied or whether additional radiographic, microscopic, isotopic, or genetic analyses have been undertaken. References of corresponding publications are given. Genetic analysis was performed for only one out of 30 individuals with achondroplasia. The historic, 180-year-old skeleton of an achondroplastic adult male is currently curated at the Museum Vrolik, the Anatomical Museum of the University of Amsterdam, The Netherlands. Boer and colleagues [11] were able to extract nuclear DNA from a premolar and identified the Gly380Arg mutation of the FGFR3 gene, which is pathognomonic for achondroplasia.
All known publications of a diseased individual are deposited in the DAARD because, in some cases, several re-evaluations have been undertaken, and the original data are distributed across several publications. Information about preserved skeletal remains is valuable for researchers who want to identify skeletons for further evaluation. When possible, this information was extracted from the publications; in some cases, the authors were contacted, and their additional information was added. Of the 30 individuals with achondroplasia, six were curated in museums, and four were housed in collections. For 20 individuals, no information about the location of the skeletal remains could be obtained.