As the official journal of the Japanese Teratology Society, Congenital Anomalies publishes experimental, clinical, epidemiological research dealing with birth defect and pregnancy loss, reproductive disabilities, and prevention of abnormal development from all over the world.

Established in 1963, our journal continues to play an important role in engaging research in this area.

Journal Metrics

  • 1.6Journal Impact Factor
  • 34%Acceptance rate
  • 29 days Submission to first decision
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Articles

SHORT COMMUNICATION
Open access

Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer

Mamiko Yamada, Daisuke Watanabe, Fuyuki Miya, Hideki Shiramizu, Masanori Inoue, Hiroki Kabata, Nobuhiro Nakamoto, Takahiro Hiraide, Takenori Akiyama, Kenjiro Kosaki, 
  •  17 July 2025
SHORT COMMUNICATION
full access

Refractory congenital chylous ascites—Case report of a successful surgical management

Inês Araújo Oliveira, Luís Salazar, Catarina Carvalho, Luísa Neiva, Elisa Proença, Fátima Carvalho, Helena Ferreira Mansilha, 
  •  12 July 2025
ORIGINAL ARTICLE
Open access

Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus

Huriye Ezveci, Şükran Doğru, Fikriye Karanfil Yaman, 
  •  10 July 2025
REVIEW ARTICLE
full access

Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives

Natsuko Utsunomiya, Motoki Katsube, Masanori Kumakiri, Naoki Morimoto, Shigehito Yamada, 
  •  9 July 2025
ORIGINAL ARTICLE
Open access

Cervical vertebrae fusion in elbow knee synostosis (Eks)-mutant mice with fibroblast growth factor 9 N143T mutation

Georgina Djameh, Masayo Harada, Keiichi Akita, 
  •  1 July 2025
More articles

The following is a list of the most cited articles based on citations published in the last three years, according to CrossRef.

free access

Using zebrafish in systems toxicology for developmental toxicity testing

Yuhei Nishimura, Atsuto Inoue, Shota Sasagawa, Junko Koiwa, Koki Kawaguchi, Reiko Kawase, Toru Maruyama, Soonih Kim, Toshio Tanaka, 
  •  18-27
  •  5 November 2015
free access

Nutritional role of folate

Shuhei Ebara, 
  •  138-141
  •  11 June 2017
Open access

Genetic polymorphisms and folate status

Mami Hiraoka, Yasuo Kagawa, 
  •  142-149
  •  9 June 2017
free access

Zebrafish as a systems toxicology model for developmental neurotoxicity testing

Yuhei Nishimura, Soichiro Murakami, Yoshifumi Ashikawa, Shota Sasagawa, Noriko Umemoto, Yasuhito Shimada, Toshio Tanaka, 
  •  1-16
  •  11 August 2014
free access

Odontoblasts: Specialized hard‐tissue‐forming cells in the dentin‐pulp complex

Nobuyuki Kawashima, Takashi Okiji, 
  •  144-153
  •  30 April 2016
More articles

Clinical Teratology

Experimental Teratology

Genetics

Normal Human Development

Regulatory Science and Epidemiology


Open access

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey

Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S. Murthy, Lili Mantcheva, Wilfredo Torres, Erin Conboy, Francesco Vetrini, 
full access

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis

Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata, 
Open access

Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review

Laura González-Ramos, Elena Martínez-Sanz, Moisés García-Serradilla, Miquel García-de-Pereda, Estela Maldonado, 
full access

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption

Mamiko Yamada, Hisato Suzuki, Fuyuki Miya, Kiyotaka Kosugiyama, Takeshi Ujiie, Hidefumi Tonoki, Kenjiro Kosaki, 
full access

Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non‐invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7‐year experience

Xiaojin Luo, Weiqiang Liu, Liang Hu, Xiaoyi Cong, Xiaoyi Liu, Hongyan Niu, Fei Zhou, Gaochi Li, Lijuan Wen, Yanyun Guo, 

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