8.30 Registration and poster allocation



9.00 Welcome speech

N. Benecke, Head of Dept. of Natural Sciences DAI Berlin

9.15 Introduction to the meeting

J. Gresky, Dept. of Natural Sciences DAI Berlin

9.30 1st Keynote lecture: Thinking about rare diseases

J. Buikstra et al., Arizona State University

10.00 Osteoarchaeological identification of rare diseases from the osteological collection of the Croatian Academy of Sciences and Arts

M. Šlaus, Croatian Academy of Sciences and Arts, Zagreb

10.20 Multiple osteochondromas: current understanding and ideas for the future

E. Murphy – C. McKenzie, Queen’s University Belfast

10.40 Upper Palaeolithic case of deformed femora of Sunghir 3 in context of paleogenetic data

A. Buzhilova, Lomonosov Moscow State University


11.00 – 11.30 Coffee break



11.30 A global perspective on dwarfism – literature review

B. Teßmann, Museum für Vor- und Frühgeschichte, Berlin SMPK

11.50 Dwarfism in predynastic and early dynastic Egypt: new evidences from the elite cemetery HK 6, Hierakonpolis

A. Pieri, Hierakonpolis Expedition

12.10 “The giant among them”: a possible case of pituitary gigantism from the Roman cemetery of En Chaplix, Aventicum, Switzerland (1st-3rd c. AD)

C. Bourbou – M. Milella, University of Fribourg


12.30 – 14.00 Lunch break


14.10 Enlarged parietal foramina in the osteoarchaeological records of the Carpathian Basin

Z. Bereczki et al., University of Szeged

14.30 Isolated or respected? Severe craniofacial cleft from the 10th c. AD in Hungary

E. Molnar et al., University of Szeged

14.50 A case of sclerosing bone dysplasia from 16th c. Sardinia: Camurati-Engelmann disease?

V. Giuffra et al., University of Pisa

15.10 Sclerosing bone dysplasias and the ossification pathway: differential diagnosis of a diffuse sclerosis in a skull of an identified male (early 20th c. Coimbra, Portugal)

B. Magalhães et al., University of Coimbra

15.30 Deep in the marrow and blood: a probable case of ancient leukemia in the South American Andes

M. Toyne – C. Schow, University of Central Florida


15.50 – 16.20 Coffee break


16.20 – 17.00 Poster session. Presentations: no. 1 to 12


17.00 Special talk Archäometrie Netzwerk Berlin Brandenburg

Rare pathologies in deep time – a fresh look at bones of fossil animals

Y. Haridy – F. Witzmann, Museum of Natural History, Berlin


From 19.00 Social dinner at Wirtshaus Heuberger Gotenstraße 1, 10829 Berlin – Schöneberg.

Please book at: rare-disease



THURSDAY 28.02.2019





9.00 Welcome speech to the Rare Disease Day

A. Rath, Director of Orphanet

9.30 2nd Keynote lecture: NGS-based analysis of rare skeleton phenotypes

U. Kornak, Charité Berlin

10.00 A fetus with multiple abnormalities born in 1735

S. Clayton et al., Max Planck Institute, Jena

10.20 Beyond the phenotype: detecting disease with aDNA

L. Cassidy – D. Bradley, Trinity College Dublin

10.40 A parental relationship between three Neolithic skeletal remains from an Apulian town (Italy): a case of family-celiac disease with highgrade osteoporosis

D. Ferorelli et al., University of Bari


11.00 – 11.30 Coffee break


11.30 MRI: a new powerful tool in paleopathological differential diagnosis

M. Čavka, University Hospital Centre, Zagreb

11.50 In silico paleopathology: virtual and quantitative approaches for the analysis of developmental anomalies of the skeleton

M. Milella, University of Zurich

12.10 Osteopetrosis tarda in an adult Neolithic skeleton from Palata 2-Ofanto river valley (Canosa – South, Italy): radiological, histological and confocal laser microscopy study

M. Favia et al., University of Bari


12.30 – 14.00 Lunch break


14.10 Skeletal manifestations of Langerhans Cell Histiocytosis on a 1964 documented case

M. Voulgari et al., University of Athens

14.30 A possible case of Histiocytosis-X and the differential diagnoses in macerated bone specimens

M. Schultz, University of Göttingen

14.50 Can Duchenne muscular dystrophy be a marker for the care given to disabled children in the past?

S. Eggers – M. Berner, Natural History Museum, Vienna15.10 A probable case of Amelogenesis Imperfecta from a Northern Italy Medieval cemetery

C. Tesi et al., University of Insubria

15.50 “Medicinalium Observationum Exempla Rara” by Rembert Dodoens (1581)

M. Dooms, University Hospitals Leuven


15.50 – 16.20 Coffee break


16.20 – 17.00 Poster session. Presentations: no. 13 to 23


17.00 Rare diseases and where to find them. Towards a Digital Atlas of Ancient Rare Diseases

W. Schmidle et al., IT Dept. DAI Berlin


18.00 Late-evening talk (Foyer)

Ancient Rare Diseases: an obscure part of our past, present and future?

A. Grauer, Loyola University Chicago

President-elect of the American Association of Physical Anthropologists

N. Lynnerup, University of Copenhagen

President of the Paleopathology Association

A. Curry

Scientific Press


FRIDAY 01.03.2019





9.00 3rd Keynote lecture: Specimen collections and museums: using the past to inform the present and the future

W. Edwards, Gordon Museum, Kings College London

09.30 The anthropological collection of the Natural History Museum, Vienna. A potential for studying rare diseases

M. Berner – S. Eggers, Natural History Museum, Vienna

09.50 Approach to the formation of paleopathological collections in Russia yesterday and today

N. Berezina – A. Buzhilova, Lomonosov Moscow State University


10.10 – 10.40 Coffee break


10.40 Two women (18th – 20th c.) with short stature: the challenge of the differential diagnosis

A. Santos et al., University of Coimbra

11.00 Evidence for rare diseases in ancient Egyptian mummieand skeletons

A. Zink et al., EURAC Research Bolzano

11.20 Selected cases of congenital malformations and pathologies in a historical wet-specimen collection

P. Eppenberger, University of Zurich

11.40 – 12.00 Closing remarks

J. Gresky, Dept. of Natural Sciences DAI Berlin




1. Achondroplasia in the ancient world

J. Bąk, University of Wroclaw

2. A case of achondroplasia? The child from Diepensee (Brandenburg, Germany)

B. Jungklaus – L. Zamstein, Anthropologie – Büro Jungklaus

3. Genetic detection of achondroplasia in historical skeletal material

M. Rusinko et al., Masaryk University, Brno

4. A possible case of dwarfism in Late Copper Age Italy

N. Zedda et al., University of Ferrara

5. Klippel-Feil syndrome, description of the rare disease by the example of the case report of the skeleton from Wągrowiec (Poland, 14th–17th c.)

B. Drupka et al., University of Wroclaw

6. A probable case of Klippel-Feil syndrome in a Neolithic skeleton from Apulia: radiological and histological analysis with confocal laser microscopy

M. Favia – D. Ferorelli, University of Bari

7. A Neolithic individual with possible Klippel-Feil syndrome and his place in community

Z. Hukeľová – M. Krošláková, Slovak Academy of Sciences

8.  A possible case of Crouzon syndrome from Modern-Age Siena (Italy)

Giuffra V. et al., University of Pisa

9. Syndromic bilateral lambdoid and sagittal synostosis (Mercedez Benz pattern craniosynostosis) in a Modern-Age skeleton from Ravenna, Italy: a rare case of Crouzon syndrome?

N. Rinaldo et al., University of Ferrara

10. Syndromic craniosynostosis and Fibroblast Growth Factor Receptors (FGFRs) mutations: Towards differential diagnosis in past populations through skeletal and genetic alterations

S. Zdral – M. J. Trujillo-Tiebas, Autonomous University of Madrid

11. Bilateral protrusio acetabuli in a Medieval skeleton from Transylvania: A Case for Marfan Syndrome

K. L. Filipek et al., Transylvania Bioarchaeology

12. Reconsidering Osteopetrosis: a case from Neolithic Albania

J. Gresky – E. Petiti, DAI Berlin

13. A rare case of Angelman syndrome from the 17th c. cemetery of Ravenna (Italy)

A. Pasini et al., University of Ferrara

14. A possible genetic defect in a young female from Waimanalo, Hawaii -work in progress

S. Storch – B. Heeb, abp – Anthropologie

15. Spotted bones in Buschke-Ollendorf syndrome: a rare and benign disease with clinical significance

S. Zdral et al., Autonomous University of Madrid

16. Case study of rare genetic disorders in children of Medieval and Early – Modern Kiev

Kozak, Institute of Archaeology Kiev

17. Bilateral dysmelia of humerus, ulna and radius and unilateral hypoplasia of the mandible in an Early Medieval skeleton.

C. Meyer – K. W. Alt, OsteoARC

18. Dysplasia of the lower arm in a female from the Merovingian Period in Central Germany

J. Nováček, TLDA Weimar

19. Unusual congenital pathological disorder from the church El-Salvador (16th-18th c., Toledo, Spain)

N. Sarkic et al., independent

20. Development anomalies of the vertebral column in Portuguese prehistoric samples

M. Silva – S. Tereso, CIAS, University of Coimbra

21. Hereditary haemorrhagic telangiectasia (HHT) – a rare genetic disorder as a possible cause of chronic iron deficiency anaemia

J. Nováček et al., TLDA Weimar

22. Could some osseous lesions be predictive of genetic anemia? Discussion about skeletal markers of beta thalassemia in archaeological human remains

F. Scianò et al., University of Ferrara



In Cooperation with

an initiative of the 
Natural Sciences Unit at the Head Office 
of the german archaeological Institute