Genetics and Dysmorphology

Genetics Hasbro Children's Hospital Physicians Office Building 593 Eddy Street Providence, Rhode Island 02903 Phone: 401-444-8361 Fax: 401-444-3288

The division of genetics treats patients of all ages. Newborn children are referred because of suspected birth defects, genetic disorders, congenital malformations and/or dysmorphic features. Older children are treated for the same problems, as well as for developmental delay or mental retardation.

Chanika Phornphutkul, M.D., has been named division director of the Division of Human Genetics at Hasbro Children’s Hospital. Read more.

Persons of all age groups can be evaluated for connective tissue disorders, such as Marfan syndrome and Ehlers-Danlos syndrome. Other reasons for referral include osteogenesis imperfecta, chromosomal disorders, autism and neurofibromatosis.

Genetic counseling and carrier testing are available for persons with family histories of cystic fibrosis, Duchenne muscular dystrophy and other genetic conditions. Evaluation, counseling and testing are also available for hereditary cancer syndromes such as hereditary breast and ovarian cancer (HBOC), familial polyposis (FAP), and hereditary nonpolyposis colon cancer (HNPCC). Genetic evaluation, counseling and gene testing are also available for Huntington's disease.

Our patients are seen in the Genetic Counseling Center or the Children's Neurodevelopment Center as outpatients, or at Hasbro Children's, Women & Infants' or Rhode Island Hospital as inpatients.