A photo of Howard Saal.

Howard M. Saal, MD, FACMG

  • Director, Genetics and Genomics Diagnostic Laboratory, Division of Human Genetics
  • Director, Cytogenetics Laboratory
  • Co-Director, 22Q-VCFS Center
  • Medical Director, Craniofacial Center
  • Professor, UC Department of Pediatrics



Howard M. Saal, MD, a highly respected clinical geneticist and dysmorphologist, is the head of the section of Clinical Genetics in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center. In addition to being board certified in clinical genetics and pediatrics, Dr. Saal is a board certified cytogeneticist.

Early in his career, he was the director of the Cytogenetics Laboratory at the University of Connecticut Health Center, where he was also the associate director of the Craniofacial Disorders Team.

Dr. Saal is interested in the genetic causes of craniofacial disorders, especially cleft lip and cleft palate. He also has a significant interest in the natural history of genetic conditions, and has authored or co-authored numerous publications centering on the natural history and management of various genetic conditions, with special attention to neurofibromatosis, cleft lip, cleft palate, Pierre Robin sequence and 22Q-VCFS.

After leaving Connecticut, Dr. Saal went to Children's National Medical Center in Washington, DC, where he was the vice-chairman of the Department of Medical Genetics and co-director of the Craniofacial Center. His clinical activities included establishment of the Neurofibromatosis Clinic, the Biochemical Genetics Clinic, and the multidisciplinary Skeletal Dysplasia Clinic with his colleagues at Children's National Medical Center. His interest in community activities led to his being named to the Health Professionals Advisory Committee and later to the Board of Directors of the National Capital Area March of Dimes.

Dr. Saal joined the staff at Cincinnati Children's in 1993 as the head of Clinical Genetics. He has been an active participant in numerous clinical settings and has established the Hereditary Cancer Program, a unique local resource for families with familial and inherited cancers.

Dr. Saal is involved in community activities and has established urban genetics outreach clinics at three sites in Hamilton County. He has also been appointed as acting director of the Craniofacial Center at Cincinnati Children's, where he continues to cultivate his interests in the care of children with craniofacial disorders.

MD: Wayne State University, Detroit, MI, 1975-1979.

Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.

Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.

Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.

Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.


Craniofacial disorders; community genetics; growth disorders; 22Q-VCFS.

Services and Specialties

Genetics, Neurofibromatosis, Craniofacial Disorders, Hereditary Cancer, 22Q-VCFS, Speech-Language Pathology, Differences of Sex Development, Upper Airway, Treacher Collins


Genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation

Research Areas

Human Genetics

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Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation. Kotsopoulos, J; Gronwald, J; Huzarski, T; Aeilts, A; Randall Armel, S; Karlan, B; Singer, CF; Eisen, A; Tung, N; Olopade, O; et al. Breast Cancer Research and Treatment. 2023; 201:257-264.

O22: A randomized controlled trial of vosoritide in infants and toddlers with achondroplasia*. Bacino, C; Savarirayan, R; Wilcox, W; Harmatz, P; Phillips, J; Polgreen, L; Tofts, L; Ozono, K; Arundel, P; Irving, M; et al. 2023; 1:100118.

P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study*. Hoover-Fong, J; Savarirayan, R; Tofts, L; Irving, M; Wilcox, W; Bacino, C; Font, RU; Harmatz, P; Rutsch, F; Bober, M; et al. 2023; 1:100222.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Savarirayan, R; Irving, M; Harmatz, P; Delgado, B; Wilcox, WR; Philips, J; Owen, N; Bacino, CA; Tofts, L; Charrow, J; et al. Genetics in Medicine. 2022; 24:2444-2452.

RF26 | PMON326 Medical History of Children Enrolled in PROPEL: A Prospective Clinical Assessment Study in Children with Achondroplasia. Irving, M; De Bergua, JM; Rogoff, D; Savarirayan, R; Arundel, P; Pierre Salles, J; Leiva-Gea, A; Saraff, V; McDevitt, H; Santos-Simarro, F; et al. Journal of the Endocrine Society. 2022; 6:a644.

PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study. Rogoff, D; Bergua, JM D; Savarirayan, R; Arundel, P; Salles, JP; Leiva-Gea, A; Irving, M; Saraff, V; McDevitt, H; Santos-Simarro, F; et al. Journal of the Endocrine Society. 2022; 6:a632-a633.

LBMON196 A Randomized Controlled Trial Of Vosoritide In Infants And Toddlers With Achondroplasia. Savarirayan, R; Wilcox, WW; Harmatz, P; III, JP; Polgreen, LE; Tofts, L; Ozono, K; Arundel, P; Irving, M; Bacino, CA; et al. Journal of the Endocrine Society. 2022; 6:a591-a592.

Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal. Kotsopoulos, J; Lubinski, J; Gronwald, J; Menkiszak, J; McCuaig, J; Metcalfe, K; Foulkes, WD; Neuhausen, SL; Sun, S; Karlan, BY; et al. Cancer Epidemiology, Biomarkers and Prevention. 2022; 31:1351-1358.

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Savarirayan, R; De Bergua, JM; Arundel, P; McDevitt, H; Cormier-Daire, V; Saraff, V; Skae, M; Delgado, B; Leiva-Gea, A; Santos-Simarro, F; et al. Therapeutic Advances in Musculoskeletal Disease. 2022; 14:1759720X221084848.

Robin sequence without cleft palate: Genetic diagnoses and management implications. Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al. American Journal of Medical Genetics, Part A. 2022; 188:160-177.

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