Cretinism; Congenital hypothyroidism; Hypothyroidism - infants

Most affected infants have few or no symptoms, because they only have a mild decrease in thyroid hormone production. However, infants with severe hypothyroidism often have a distinctive appearance. Symptoms may include:

• Puffy-appearing face
• Dull look
• Thick, protruding tongue

This appearance usually develops as the disease gets worse. The child may also have:

• Dry, brittle hair
• Low hairline
• Jaundice
• Poor feeding
• Choking episodes
• Lack of muscle tone (floppy infant)
• Constipation
• Sleepiness
• Sluggishness
• Short stature

A physical exam may reveal:

• Abnormally large fontanelles (soft spots of the skull)
• Broad hands with short fingers
• Decreased muscle tone
• Growth failure
• Hoarse-sounding cry or voice
• Short arms and legs
• Widely separated skull bones

Blood tests will be done to check thyroid function. Other tests that may be done include:

• Thyroid scan
• X-ray of the long bones

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Neonatal hypothyroidism Overview

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Neonatal hypothyroidism Treatment

Review Date: 05/12/2009
Reviewed By: Robert Cooper, MD, Endocinology Specialist and Chief of Medicine, Holyoke Medical Center, Assistant Professor of Medicine, Tufts University School of Medicine, Boston MA. Review provided by VeriMed Healthcare Network. Also reviewed by Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. Previously reviewed by Alan Greene, MD, FAAP, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital; Chief Medical Officer, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)