Handbook of Genetic Counseling/Short Stature

Short Stature

Considerations for Short StatureEdit

  • Abnormally short stature may result form a primary abnormality of skeletal organization, growth, or development (skeletal dysplasia - metabolic or single-gene), or from extraosseous defect (nutrition, teratogen, endocrine, psychosocial, or cytogenetic).
  • The use of growth curves with attention to ethnic and family background will help identify the patient with pathologic short stature.
  • The initial step in the clinical evaluation of short stature is to determine whether the body is proportionate or disproportionate. (Proportionate growth suggests an extraosseous defect, while disproportionate growth suggests a skeletal dysplasia.) Precise body measurements, such as upper to lower-limb-segment ratios, sitting height, arm span, and hand and foot measurements are diagnostically useful.
  • The next step is to determine whether the growth deficiency was of prenatal or postnatal onset. (Prenatal onset suggests a fetal environment insult or genetic defect, while a postnatal onset suggests chronic disease, endocrine disorder, or psychosocial issues.)
  • A family height history should be discussed and parental heights should be measured. A pregnancy history should be taken and teratogen exposure should be discussed. Cytogenetic studies, including a karyotype should be done. Skeletal films of the hand will determine bone age. Growth hormone assays and thyroid studies should be coordinated through endocrinology.

Considerations for Failure to ThriveEdit

  • The term failure to thrive is used for children and infants who, without superficially evident cause, fail to gain and often lose weight.
  • Most instances of FTT result from psychosocial circumstances which adversely affect the child's intake, absorption, or utilization of food (including emotional deprivation, physical neglect or abuse, and withholding food).
  • FTT may be related to a physical handicap, such as cerebral palsy or cleft palate.
  • FTT may also result from obscure organic abnormalities or overt diseases in which growth failure occurs.
  • Hospitalization for study and treatment allows for quantification of factors controlling the net caloric intake (food intake, vomiting, and stools) and for observation of the child's interactions with the family. This hospitalization frequently leads to dramatic improvement of weight gain and provides evidence that the environmental factors are the cause.
  • Making a growth chart and developmental flow sheet flow sheet may identify the point in time where the child began to fail to thrive. If the child's growth has been steady, just below the expected level (if the child is following their own growth curve), then diagnoses like constitutional short stature, hypopituitarism, or chromosomal abnormality may be considered.
  • If the medical history and physical examination suggest disturbances in any particular organ systems, then diagnostic study should be pursued. This could begin with routine screening tests, like blood counts and urinalyses.


  • Clinical Genetics Handbook. Berini, RY and Eva Kahn, Eds. Oradell: Medical Economics Books, 1987.
  • Textbook of Pediatrics. Nelson.


The information in this outline was last updated in 2002.