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.saal@cchmc.org
- Board Certified
About
Biography
I am a clinical geneticist and dysmorphologist, serving as 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, I am also a board certified cytogeneticist.
Early in my career, I was the director of the Cytogenetics Laboratory at the University of Connecticut Health Center, where I also served as the associate director of the Craniofacial Disorders Team.
I am particularly interested in the genetic causes of craniofacial disorders, especially cleft lip and cleft palate. I also have a significant interest in the natural history of genetic conditions and have authored or co-authored numerous publications focusing 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, I joined Children's National Medical Center in Washington, DC, where I served as the vice-chairman of the Department of Medical Genetics and co-director of the Craniofacial Center. My clinical activities included establishing the Neurofibromatosis Clinic, the Biochemical Genetics Clinic, and the multidisciplinary Skeletal Dysplasia Clinic with my colleagues at Children's National Medical Center. My interest in community activities led to my being named to the Health Professionals Advisory Committee and later to the Board of Directors of the National Capital Area March of Dimes.
I joined the staff at Cincinnati Children's in 1993 as the head of Clinical Genetics. I have been an active participant in numerous clinical settings and have established the Hereditary Cancer Program, a unique local resource for families with familial and inherited cancers.
I am also involved in community activities and have established urban genetics outreach clinics at three sites in Hamilton County. Additionally, I have been appointed as acting director of the Craniofacial Center at Cincinnati Children's, where I continue to cultivate my 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.
Interests
Craniofacial disorders; community genetics; growth disorders; 22Q-VCFS.
Services and Specialties
Interests
Genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation
Research Areas
Publications
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2024; 196:e32095.
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis. British Journal of Cancer. 2024; 130:269-274.
P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*. 2024; 2:101038.
P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide*. 2024; 2:101028.
P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*. 2024; 2:101036.
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. The Lancet Child and Adolescent Health. 2024; 8:40-50.
A randomized controlled trial of vosoritide in infants and toddlers with Achondroplasia. Zeitschrift für Geburtshilfe und Neonatologie. 2023; 227:e165-e166.
THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib. Journal of the Endocrine Society. 2023; 7:bvad114.1432.
THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials. Journal of the Endocrine Society. 2023; 7:bvad114.1416.
OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study. Journal of the Endocrine Society. 2023; 7:bvad114.1525.
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