Behind every condition described on this site lies a body of research: who is affected, how often, what is known and what is still missing. This bibliography gathers the peer-reviewed publications on those limb differences, and on thalidomide, the drug behind the largest cluster of them, so that families, associations and researchers can start from the same shelf. Each reference is checked against PubMed and links to its DOI. Filter by condition, theme or year, or search.
Alpha-terpineol induced developmental toxicity in Wistar rats: Embryotoxic, teratogenic, and targeted gene expression effects
Hegde SS, Malashetty VB · Toxicology and applied pharmacology · 2026 · 511:117811 · doi:10.1016/j.taap.2026.117811
PhocomeliaCauses & risk factorsGeneticsPubMed search
Assessing the Impact of Exposure Misclassification in Case-Control Studies of Self-Reported Medication Use
Adrien N, MacLehose RF, Werler MM, et al. · Paediatric and perinatal epidemiology · 2026 · 40:190-199 · doi:10.1111/ppe.13161
Amniotic band syndromeCauses & risk factorsClinical care & surgeryPubMed search
Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster
Jena D, Pattanaik S, Sahoo SK, et al. · AACE endocrinology and diabetes · 2026 · 13:22-26 · doi:10.1016/j.aed.2025.08.019
PolydactylyCauses & risk factorsGeneticsPubMed search
Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series
Faheem MA, Ghanghro L, Khan A, et al. · Health science reports · 2026 · 9:e72655 · doi:10.1002/hsr2.72655
SyndactylyMeta-analyses & systematic reviewsReviews & guidelinesPubMed search
Congenital malformation risk following prenatal antipsychotic exposure: a systematic safety surveillance approach
Straub L, Wang SV, Hernandez-Diaz S, et al. · BMJ mental health · 2026 · 29 · doi:10.1136/bmjment-2025-302270
PolydactylyCauses & risk factorsEpidemiologyPubMed search
Descriptive Exploration of Features Among Infants With Prenatal Fentanyl Exposure in a Multisite Cohort of Maternal-Infant Dyads Affected by Opioid Use Disorder
Dorsey AN, Rasmussen SA, Cragan JD, et al. · Journal of addiction medicine · 2026 · 20:e4-e11 · doi:10.1097/ADM.0000000000001650
SyndactylyCauses & risk factorsEpidemiologyPubMed search
Effects of wildfire smoke exposure on health parameters and inflammatory responses of beef-on-dairy calves
Ranches J, Dos Santos ACR, Puerto-Hernandez GM, et al. · Journal of animal science · 2026 · 104 · doi:10.1093/jas/skag040
AmeliaCauses & risk factorsClinical care & surgeryPubMed search
Evaluating Missing Data Imputation Strategies for Environmental Mixture Models: A Simulation Study and Applied Analysis
Boafo YS, Mostafa S, Obeng-Gyasi E · Data science in science · 2026 · 5 · doi:10.1080/26941899.2026.2696661
AmeliaCauses & risk factorsEpidemiologyPubMed search
Fertility and pregnancy outcomes after CAR T-cell therapy: insights from a systematic review
Kremer P, Holzer MT, Ruffer N, et al. · EULAR rheumatology open · 2026 · 2:62-68 · doi:10.1016/j.ero.2025.11.011
PolydactylyMeta-analyses & systematic reviewsReviews & guidelinesPubMed search
Functional outcome measures for pediatric upper limb deficiencies with and without prostheses: A systematic review and appraisal
Cordray H, Fiandeiro M, Banala M, et al. · Prosthetics and orthotics international · 2026 · 50:50-67 · doi:10.1097/PXR.0000000000000441
Meta-analyses & systematic reviewsPubMed search
Maternal exposure to ambient air pollution and risk of congenital limb defects in offspring
Zhang Y, Tan Y, Zhang D, et al. · Scientific reports · 2026 · 16:5779 · doi:10.1038/s41598-026-36527-w
PolydactylyCauses & risk factorsEpidemiologyPubMed search
Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies
Mirsky E, Cockerham C, O'Brien J, et al. · Journal of addiction medicine · 2026 · 20:e12-e14 · doi:10.1097/ADM.0000000000001679
SyndactylyCauses & risk factorsGeneticsPubMed search
Protective effect of docosahexaenoic acid (DHA) against prenatal cytarabine exposure-induced developmental toxicity in SD rat
Chilaka KN, Nimmalapudi SN, Namoju R · Naunyn-Schmiedeberg's archives of pharmacology · 2026 · 399:16451-16474 · doi:10.1007/s00210-026-05424-4
PhocomeliaCauses & risk factorsClinical care & surgeryPubMed search
Protective role of methylcobalamin (Vit B12) and pyridoxine (Vit B6) combination against teratogenic effects induced by lead in chick embryo
Idrees R, Kanwal MA, Ahmad SN, et al. · Toxicology reports · 2026 · 16:102280 · doi:10.1016/j.toxrep.2026.102280
AmeliaCauses & risk factorsClinical care & surgeryPubMed search
Pseudoamniotic Band Sequence Risk Factors following Fetoscopic Laser for Twin-Twin Transfusion Syndrome
Lemoine FV, Backley S, Vilchez-Lagos G, et al. · Fetal diagnosis and therapy · 2026 · 53:388-398 · doi:10.1159/000550538
Amniotic band syndromeCauses & risk factorsClinical care & surgeryPubMed search
Risk of Falls and Fractures in People with Thalidomide Embryopathy
Beyer R, Höller A, Schön G · Zeitschrift fur Orthopadie und Unfallchirurgie · 2026 · 164:143-150 · doi:10.1055/a-2685-5018
Thalidomide embryopathyLiving with a limb differencefound on Stichting NESOS
Shared decision making in the treatment of type B ulnar polydactyly: a systematic review and meta-analysis on parental satisfaction and complications
Ten Berge SH, Nieuwdorp NJ, Burger EB, et al. · The Journal of hand surgery, European volume · 2026:17531934261447693 · doi:10.1177/17531934261447693
PolydactylyMeta-analyses & systematic reviewsPubMed search
Single-Cell Sequencing Reveals Thalidomide-Induced Teratogenicity in Zebrafish via Endoplasmic Reticulum Stress and Dysregulated Angiogenic Signaling
Zhao J, Song T · The Journal of craniofacial surgery · 2026 · 37:746-752 · doi:10.1097/SCS.0000000000011570
Thalidomide embryopathyCauses & risk factorsGeneticsPubMed search
A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review
Yang W, Zhou J, Si N, et al. · Molecular genetics & genomic medicine · 2025 · 13:e70140 · doi:10.1002/mgg3.70140
Ectrodactyly (SHFM)Causes & risk factorsEpidemiologyReviews & guidelinesPubMed search
A Practical Prenatal Ultrasound Classification System for Lower Limb Anomalies-PRELLIM Classification
Arduç A, van Doesburg MHM, Witbreuk MMEH, et al. · Prenatal diagnosis · 2025 · 45:1442-1449 · doi:10.1002/pd.6885
Amniotic band syndromeMeta-analyses & systematic reviewsPubMed search
A Systematic Review of Digital Deformities in Pediatric Patients and Their Podiatric Treatments
Miralles MJC, Vargas RG, Vallés AJ, et al. · Children (Basel, Switzerland) · 2025 · 12 · doi:10.3390/children12111461
PolydactylySyndactylyMeta-analyses & systematic reviewsReviews & guidelinesPubMed search
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
Sezer A, Oner SS, Saat H, et al. · European journal of human genetics : EJHG · 2025 · 33:1240-1251 · doi:10.1038/s41431-025-01902-0
PolydactylyCauses & risk factorsGeneticsPubMed search
Cardiovascular manifestations of thalidomide embryopathy
Klein-Weigel PF, Ding-Greiner C · VASA. Zeitschrift fur Gefasskrankheiten · 2025 · 54:299-304 · doi:10.1024/0301-1526/a001208
Thalidomide embryopathyClinical care & surgeryReviews & guidelinesPubMed search
Comparison Between Surgical Techniques for Correction of Congenital Syndactyly: A Systematic Review and Meta Analysis
Schirlo JM, Saad Cleto A, Beltrame D, et al. · Hand (New York, N.Y.) · 2025 · 20:523-532 · doi:10.1177/15589447241279456
SyndactylyMeta-analyses & systematic reviewsPubMed search
Comprehensive Search for Genes Involved in Thalidomide Teratogenicity Using Early Differentiation Models of Human Induced Pluripotent Stem Cells: Potential Applications in Reproductive and Developmental Toxicity Testing
Kato Y, Inaba T, Shinke K, et al. · Cells · 2025 · 14 · doi:10.3390/cells14030215
Thalidomide embryopathyCauses & risk factorsGeneticsfound on Stichting NESOS
Development of external morphological malformations induced by hyperthermia exposure during the blastula stage in an ex-ovo (shell-less) culture of Gallus gallus domesticus embryos
Macias-Marin O, Guerrero-Barrera AL, Valdivia-Flores AG, et al. · Poultry science · 2025 · 104:105341 · doi:10.1016/j.psj.2025.105341
AmeliaCauses & risk factorsGeneticsPubMed search
Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation
Wang H, Jiang Y, Chen Y, et al. · Frontiers in genetics · 2025 · 16:1570754 · doi:10.3389/fgene.2025.1570754
PolydactylyCauses & risk factorsGeneticsPubMed search
First-trimester exposure to macrolides and risk of major congenital malformations compared with amoxicillin: A French nationwide cohort study
Tran A, Zureik M, Sibiude J, et al. · PLoS medicine · 2025 · 22:e1004576 · doi:10.1371/journal.pmed.1004576
SyndactylyCauses & risk factorsEpidemiologyPubMed search
Maternal Diarrhea During the Periconceptional Period and the Risk of Birth Defects, National Birth Defects Prevention Study, 2006-2011
Waller DK, Mohan Dass NL, Oluwafemi OO, et al. · Birth defects research · 2025 · 117:e2438 · doi:10.1002/bdr2.2438
Amniotic band syndromeCauses & risk factorsClinical care & surgeryPubMed search
New insight into teratogenic effects of (S)-thalidomide in zebrafish embryos growing inside the chorion and subjected to electric pulses
Małkowska A, Szymański Ł, Nowakowska J, et al. · Scientific reports · 2025 · 15:17052 · doi:10.1038/s41598-025-00641-y
Thalidomide embryopathyCauses & risk factorsClinical care & surgeryPubMed search
Placental and Umbilical Cord Anomalies Detected by Ultrasound as Clinical Risk Factors of Adverse Perinatal Outcomes. Case Series Review of Selected Conditions. Part 3: Vascular Anomalies of the Umbilical Cord and Fetoplacental Vascular Malperfusion
Tonni G, Lituania M, Grisolia G, et al. · Journal of clinical ultrasound : JCU · 2025 · 53:863-879 · doi:10.1002/jcu.23904
Amniotic band syndromeCauses & risk factorsClinical care & surgeryReviews & guidelinesPubMed search
Reconstructive techniques for chest and breast deformities in Poland syndrome: An up-to-date systematic review
Grande PK, Mortell T, Chang AE, et al. · Journal of plastic, reconstructive & aesthetic surgery : JPRAS · 2025 · 101:207-215 · doi:10.1016/j.bjps.2024.12.008
Poland syndromeMeta-analyses & systematic reviewsPubMed search
Risk Factors for Complications in Reconstructing Congenital Femoral Deficiency
Shahcheraghi GH, Javid M, Nemati A · The Journal of the American Academy of Orthopaedic Surgeons · 2025 · 33:e511-e521 · doi:10.5435/JAAOS-D-24-00090
Fibular hemimeliaCauses & risk factorsClinical care & surgeryPubMed search
Secondary musculoskeletal disability and rehabilitation aspects in adults with thalidomide embryopathy: A narrative review
Haga N, Fujitani J, Kobayashi T, et al. · Intractable & rare diseases research · 2025 · 14:175-182 · doi:10.5582/irdr.2025.01032
Thalidomide embryopathyLiving with a limb differenceReviews & guidelinesPubMed search
Stuck Together: A Systematic Review of Hand Syndactyly
Gowrie S, Omosebi O, Veith P, et al. · Cureus · 2025 · 17:e81943 · doi:10.7759/cureus.81943
SyndactylyMeta-analyses & systematic reviewsReviews & guidelinesPubMed search
Thalidomide-induced limb malformations: an update and reevaluation
Collins MD, Scott WJ · Archives of toxicology · 2025 · 99:1643-1747 · doi:10.1007/s00204-024-03930-z
PhocomeliaThalidomide embryopathyReviews & guidelinesPubMed search
Thalidomide: Following Tragedy, a Repurposed Molecule With Continuing Opportunities for Clinical Benefit
Beninger P · Clinical therapeutics · 2025 · 47:249-251 · doi:10.1016/j.clinthera.2025.01.011
Thalidomide embryopathyClinical care & surgeryPubMed search
The aetiology distribution of birth defects based on the China Birth Cohort Study
Liu X, Liu R, Wang C, et al. · BMJ paediatrics open · 2025 · 9 · doi:10.1136/bmjpo-2025-003451
PolydactylyCauses & risk factorsGeneticsPubMed search
Ultrasound-Guided Nerve Block With Intravenous Moderate Sedation for Dental Surgery in Thalidomide Embryopathy With Facial Hyperalgesia
Kawauchi A, Ito T, Ishii A, et al. · Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry · 2025 · 45:e70074 · doi:10.1111/scd.70074
Thalidomide embryopathyProsthetics & technologyPubMed search
Usefulness and limitations of Chat GPT in getting information on teratogenic drugs exposed in pregnancy
Han JY · Obstetrics & gynecology science · 2025 · 68:1-8 · doi:10.5468/ogs.24231
PhocomeliaCauses & risk factorsClinical care & surgeryReviews & guidelinesPubMed search
Van der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report
Bossolani-Martins AL, Meira JGC, Kobayashi GS, et al. · Genetics and molecular biology · 2025 · 48:e20240123 · doi:10.1590/1678-4685-GMB-2024-0123
Amniotic band syndromeCauses & risk factorsGeneticsPubMed search
A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020
Portilla-Rojas E, Ramírez L, Moreno C, et al. · Birth defects research · 2024 · 116:e2312 · doi:10.1002/bdr2.2312
PolydactylyCauses & risk factorsEpidemiologyPubMed search
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France
Boudet-Berquier J, Demattei C, Guldner L, et al. · European journal of epidemiology · 2024 · 39:753-771 · doi:10.1007/s10654-024-01125-5
Causes & risk factorsClinical care & surgeryPubMed search
Clinical and operative risk factors for complications after Apert hand syndactyly reconstruction
Cordray H, Graham EM, Kota A, et al. · The Journal of hand surgery, European volume · 2024 · 49:617-626 · doi:10.1177/17531934231213516
SyndactylyCauses & risk factorsEpidemiologyPubMed search
Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis
Karim JN, Di Mascio D, Roberts N, et al. · Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2024 · 64:15-27 · doi:10.1002/uog.27649
PolydactylyMeta-analyses & systematic reviewsPubMed search
Developing a Congenital Upper Limb Difference Registry in Australia
Wilks DJ, McCombe DB · The journal of hand surgery Asian-Pacific volume · 2024 · 29:486-491 · doi:10.1142/S2424835524300068
Epidemiologyfound on Aussiehands
Fetoscopic Release of Amniotic Bands Based on the Evidence-A Systematic Review
Ferrer-Marquez F, Peiro JL, Tonni G, et al. · Prenatal diagnosis · 2024 · 44:1231-1241 · doi:10.1002/pd.6636
Amniotic band syndromeMeta-analyses & systematic reviewsPubMed search
Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017
Feldkamp ML, Canfield MA, Krikov S, et al. · Birth defects research · 2024 · 116:e2306 · doi:10.1002/bdr2.2306
Amniotic band syndromeEpidemiologyfound on Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network, EUROCAT
Heavy metals and trace elements in maternal blood and prevalence of congenital limb abnormalities among newborns: the Japan Environment and Children's Study
Ikeda A, Marsela M, Miyashita C, et al. · Environmental health and preventive medicine · 2024 · 29:36 · doi:10.1265/ehpm.23-00366
PolydactylySyndactylyCauses & risk factorsEpidemiologyPubMed search
Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary
Kodytková A, Dušátková P, Amaratunga SA, et al. · Hormone research in paediatrics · 2024 · 97:106-112 · doi:10.1159/000531452
PhocomeliaThalidomide embryopathyGeneticsReviews & guidelinesPubMed search
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
Al Jabry T, Al-Hashmi N, Abdelhadi B, et al. · European journal of medical genetics · 2024 · 67:104903 · doi:10.1016/j.ejmg.2023.104903
Cenani-Lenz syndromeSyndactylyCauses & risk factorsGeneticsReviews & guidelinesPubMed search
Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption
Strasser AS, Gonzalez-Reiche AS, Zhou X, et al. · Nature communications · 2024 · 15:7154 · doi:10.1038/s41467-024-51328-3
Roberts syndromeCauses & risk factorsGeneticsPubMed search
Maternal and perinatal outcomes of minimally invasive fetal surgeries: experience from two reference centers in Rio de Janeiro, Brazil
Ávila LM, Carvalho PRN, Sá RAM, et al. · Sao Paulo medical journal = Revista paulista de medicina · 2024 · 142:e2023159 · doi:10.1590/1516-3180.2023.0159.R1.16022024
Amniotic band syndromeCauses & risk factorsClinical care & surgeryPubMed search
Moderate altitude as a risk factor for isolated congenital malformations. Results from a case-control multicenter-multiregional study
Ibarra-Ibarra BR, Luna-Muñoz L, Mutchinick OM, et al. · Birth defects research · 2024 · 116:e2335 · doi:10.1002/bdr2.2335
PolydactylyCauses & risk factorsEpidemiologyPubMed search
Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
Junior JHMF, Junior SP, Pustilnik HN, et al. · Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024 · 40:2161-2168 · doi:10.1007/s00381-024-06346-3
PolydactylyMeta-analyses & systematic reviewsPubMed search
Parental experience after diagnosis of a congenital upper limb difference: a national survey
Clelland AD, Lester R, Duncan Ó, et al. · The Journal of hand surgery, European volume · 2024 · 49:1327-1333 · doi:10.1177/17531934241249014
Living with a limb differencefound on Reach
Perinatal prevalence of birth defects in the Mainland of China, 2000-2021: a systematic review and meta-analysis
Kang LY, Guo ZR, Shang WJ, et al. · World journal of pediatrics : WJP · 2024 · 20:669-681 · doi:10.1007/s12519-023-00786-8
PolydactylyMeta-analyses & systematic reviewsPubMed search
Prevalence of congenital anomalies according to maternal race and ethnicity, Texas, 1999-2018
Schraw JM, Jaime E, Shumate CJ, et al. · Birth defects research · 2024 · 116:e2274 · doi:10.1002/bdr2.2274
PolydactylyCauses & risk factorsEpidemiologyPubMed search
Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo
Ahmad W, Kanwal MA, Inayat I, et al. · Birth defects research · 2024 · 116:e2416 · doi:10.1002/bdr2.2416
AmeliaPhocomeliaCauses & risk factorsClinical care & surgeryPubMed search
Rare Combination of Congenital Microtia and Limb Malformations: Analysis of Etiology and Treatment
Gao D, Luo P, Guo R, et al. · The Journal of craniofacial surgery · 2024 · doi:10.1097/SCS.0000000000010659
Causes & risk factorsGeneticsPubMed search
Built 2026-09-12 from three trusted sources: the references Orphanet cites in its epidemiology data (Orphadata, CC BY 4.0), the sources of the prevalence annex, and the publications our member associations put forward on their own websites. Titles, authors and DOIs come from PubMed (NCBI E-utilities) or Crossref, never typed by hand. Every paper found on a member website was screened to keep only articles about the conditions described on this site. Three fixed PubMed queries, re-run at each build, add the thalidomide literature (title query: thalidomide with teratogenicity, embryopathy, birth defects, phocomelia, survivors, limb, malformation, Contergan, victims, disaster or tragedy), the systematic reviews and meta-analyses on our conditions (publication type or title, combined with the condition names), and the literature on causes and risk factors (title terms such as aetiology, risk factors, teratogen, maternal, exposure, environmental, pesticides, clusters or vascular disruption, combined with the condition names). The registries listed on Orphanet for our conditions were crawled the same way as member websites. Suggest a reference: info@dysnet.org. Download the data (JSON, CC BY 4.0).
