Skeletal Dysplasia Differential Diagnoses

Updated: Sep 22, 2022
  • Author: Santina A Zanelli, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations


These include the following:

  • Cardiopulmonary disorders, such as dysgammaglobulinemia, familial dysautonomia, severe recurrent pneumonias with bronchiectasis or with intractable asthma and congenital heart defects, especially cyanotic forms

  • Chromosomal disorders

  • Endocrine disorders, such as pituitary skeletal dysplasia, growth hormone deficiency, Mauriac syndrome, and Shwachman syndrome

  • Inborn errors of metabolism, such as lysosomal storage disorders

  • Intrauterine growth retardation, such as maternal insufficiency due to drugs, ethanol, infections including rubella, cytomegalic inclusion disease, syphilis, and toxoplasmosis; fetal insufficiency due to chromosomal disorders; and placental insufficiency

  • Nutritional disorders due to inadequate energy intake, such as cleft palate, anorexia, deprivation, feeding problems, and severe malnutrition such as kwashiorkor or marasmus

  • Primary growth disturbances, such as primordial skeletal dysplasia, Seckel syndrome, and Weill-Marchesani syndrome

Differential Diagnoses