A photo of Howard Saal.

Director, Clinical Genetics

Director, Cytogenetics Laboratory

Co-Director, 22Q-VCFS Center

Medical Director, Craniofacial Center

Professor, UC Department of Pediatrics



Board Certified

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

  • Mason


    9560 Children's Drive
    Mason, Ohio 45040

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

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Russell, BE; Rigueur, D; Weaver, KN; Sund, K; Basil, JS; Hufnagel, RB; Prows, CA; Oestreich, A; AlGazali, L; Hopkin, RJ; et al. Molecular Genetics and Genomic Medicine. 2019; 7.

The "broken wishbone " splenial sign: A diagnostic hallmark for SPG54 spastic ataxia. Zaidi, SA; Saal, HM; Espay, AJ; Duker, AP. Journal of the Neurological Sciences. 2019; 403:114-116.

Using human sequencing to guide craniofacial research. Liegel, RP; Finnerty, E; Blizzard, L; DiStasio, A; Hufnagel, RB; Saal, HM; Sund, KL; Prows, CA; Stottmann, RW. Genesis: the Journal of Genetics and Development. 2019; 57:e23259-e23259.

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. Kline-Fath, BM; Jr, MA C; Calvo-Garcia, MA; Nagaraj, UD; Saal, HM. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI. 2018; 48:1032-1034.

Family History Collection Practices: National Survey of Pediatric Primary Care Providers. Tarini, BA; Gornick, MC; Zikmund-Fisher, BJ; Saal, HM; Edmondson, L; Uhlmann, WR. Clinical Pediatrics. 2018; 57:537-546.

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Kishnani, PS; Rush, ET; Arundel, P; Bishop, N; Dahir, K; Fraser, W; Harmatz, P; Linglart, A; Munns, CF; Nunes, ME; et al. Molecular Genetics and Metabolism. 2017; 122:4-17.

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies. Ocaranza, P; Golekoh, MC; Andrew, SF; Guo, MH; Kaplowitz, P; Saal, H; Rosenfeld, RG; Dauber, A; Cassorla, F; Backeljauw, PF; et al. Hormone Research in Paediatrics: from developmental endocrinology to clinical research. 2017; 87:412-422.

Genetics of Disorders of Sex Development: The DSD-TRN Experience. Délot, EC; Papp, JC; Fox, M; Grody, W; Lee, H; Vilain, E; Keegan, C; Ramsdell, L; Green, J; Barseghyan, H; et al. Endocrinology and Metabolism Clinics of North America. 2017; 46:519-537.

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. Job, F; Mizumoto, S; Smith, L; Couser, N; Brazil, A; Saal, H; Patterson, M; Gibson, MI; Soden, S; Miller, N; et al. BMC Medical Genetics. 2016; 17.

Genetic Evaluation for Craniofacial Conditions. Saal, HM. Facial Plastic Surgery Clinics of North America. 2016; 24:405-425.