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Congenital Deformities

abnormalities family physical syndrome

Congenital deformities include a broad range of physical abnormalities existing from birth, although some, such as scoliosis, may not manifest until later in life. The most common are craniofacial deformities, such as cleft lip or palate, and skeletal deformities, such as clubfoot or spina bifida. Certain chromosomal disorders such as Fragile X syndrome and Down syndrome also have associated physical abnormalities, as have substance-induced problems such as fetal alcohol syndrome. The impacts of congenital deformities can be primary, such as delays in the development of motor and language skills, or secondary, such as social ostracism and low self-esteem. Surgical procedures may help with many of the physical abnormalities, although these can involve multiple surgeries and may cause more stress for the child and family members. Congenital abnormalities are best thought of as chronic illnesses; multidisciplinary, as well as psychosocial, interventions at the individual, family, and community levels are usually recommended.


Brewer, E. J., M. McPherson, P. R. Magrab, and V. L. Hutchins."Family-Centered, Community-Based Coordinated Care for Children with Special Health Care Needs." Pediatrics 83 (1989):1055-1060.

Smith, D. W. Smith's Recognizable Patterns of Human Malformation, 4th edition, edited by K. L. Jones. Philadelphia: Saunders, 1988.

William E. Sobesky

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