A photo of Howard Saal.

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



Board Certified

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My Biography & Research


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.

Clinical Interests

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

Research Interests

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

Academic Affiliation

Professor, UC Department of Pediatrics

Clinical Divisions

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

Research Divisions

Human Genetics

My Locations

My Education

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.

My Publications

Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers. Stjepanovic, N; Lubinski, J; Moller, P; Randall Armel, S; Foulkes, WD; Tung, N; Neuhausen, SL; Kotsopoulos, J; Sun, P; Sun, S; et al. Breast Cancer Research and Treatment. 2021; 187:515-523.

ROBIN SEQUENCE. Saal, HM. Cassidy and Allanson's Management of Genetic Syndromes. 2021.

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Abell, K; Hopkin, RJ; Bender, PL; Jackson, F; Smallwood, K; Sullivan, B; Stottmann, RW; Saal, HM; Weaver, KN. American Journal of Medical Genetics, Part A. 2021; 185:413-423.

Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?. Shillington, A; Lamy, M; Vawter-Lee, M; Erickson, C; Saal, H; Comoletti, D; Abell, K. Journal of Autism and Developmental Disorders. 2021; 51:371-376.

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia. Simpson, BN; Khattar, D; Saal, H; Prada, CE; Choo, D; Marcheschi, L; Wiley, S; Hopkin, RJ. European Journal of Medical Genetics. 2021; 64.

Fetal Micrognathia and Airway Establishment on Placental Support. Riddle, S; Lim, FY; Rutter, M; Saal, HM; Kingma, P. NeoReviews. 2021; 22:e73-e77.

Characterization of tracheobronchomalacia in infants with hypophosphatasia. Padidela, R; Yates, R; Benscoter, D; McPhail, G; Chan, E; Nichani, J; Mughal, MZ; Myer, C; Narayan, O; Nissenbaum, C; et al. Orphanet Journal of Rare Diseases. 2020; 15.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al. Birth Defects Research. 2020; 112:1733-1737.

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Savarirayan, R; Tofts, L; Irving, M; Wilcox, W; Bacino, CA; Hoover-Fong, J; Ullot Font, R; Harmatz, P; Rutsch, F; Bober, MB; et al. The Lancet. 2020; 396:684-692.

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. Utz, VM; Brightman, DS; Sandoval, MA; Hufnagel, R; Saal, HM. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:644-655.