What Are the Clinical Signs and Symptoms of Congenital Syphilis?

Patient Presentation
A 5-day-old male came to clinic for his well-child examination. He was taking formula every 2-3 hours and his mother complained that she was quite tired from feeding him. The past medical history showed his 19-year-old G3P1 mother had received prenatal care but was living in transitional housing. She had been working until his birth at a restaurant. She had been positive on several occasions for sexually transmitted infections including syphilis before conception and had been treated. During pregnancy she was treated at his first appointment for chlamydia and tested negative for other sexually transmitted infections including syphilis and HIV. She had been re-screened at different points during pregnancy and was negative.

The patient’s clinical course showed that he had no complications and a normal physical examination. Neonatology had been consulted and as the mother had been adequately treated before and during pregnancy, no specific evaluation or treatment for any sexually transmitted disease was recommended.

The pertinent physical exam showed a healthy male who was down 3% from his birth weight. Growth parameters were around the 25th percentile.

The diagnosis of a healthy male was made. The mother had been offered social work support during their admission and asked for additional help with transportation and food programs. The resident and the staff physician both discussed that they knew that the incidence of syphilis was increasing but had not treated anyone for it in a long time.

The patient’s clinical course showed that several health supervision appointments were missed or rescheduled, however by his 12 month appointment he had received all of his vaccines, they were now living a shared apartment, and his mother had two steady part-time jobs.

Syphilis is caused by the spirochete Treponema pallidum. It is a very old disease that despite understanding the organism and readily available treatment, still causes disease. Syphilis is transmitted sexually. According to the Centers for Disease Control, “[i]n 2018, a total of 35,063 cases of [Primary and Secondary] syphilis were reported in the United States, yielding a rate of 10.8 cases per 100,000 population …. This rate represents a 14.9% increase compared with 2017 (9.4 cases per 100,000 population), and a 71.4% increase compared with 2014 (6.3 cases per 100,000 population).” The increase is associated with an increase in men, particularly men who have sex with men. Syphilis is also considered a risk factor for Human Immunodeficiency Virus (HIV).

Syphilis can also be transmitted to the fetus because of the maternal spirochetemia and transplacental transmission resulting in congenital syphilis if not treated. Transmission increases with the advancing pregnancy but can occur at any time. Fetuses and infants can be affected from birth or years later. “After decreasing from 10.5 to 8.4 reported congenital syphilis cases per 100,000 live births during 2008-2012, the rate of reported congenital syphilis has subsequently increased each year since 2012. In 2018, there were a total of 1,306 reported cases of congenital syphilis, including 78 syphilitic stillbirths and 16 infant deaths, and a national rate of 33.1 cases per 100,000 live births. This rate represents a 39.7% increase relative to 2017 (23.7 cases per 100,000 live births) and a 185.3% increase relative to 2014 (11.6 cases per 100,000 live births).”

Evaluation includes a detailed history and physical examination. Early congenital syphilis is also associated with anemia, thrombocytopenia, abnormal liver enzymes, and cerebrospinal fluid with pleocytosis and elevated protein. The diagnosis is made by detection of spirochetes or antibodies in body tissues or fluids. Two commonly used serological tests are rapid plasma reagin (RPR) and Venereal Disease Research Laboratory tests (VDRL). Prevention is key so all pregnant women are tested at their first prenatal appointment in the first trimester and again later in pregnancy (28-32 week gestation) if in high risk areas. Women who are positive for syphilis and their sexual partners should be screened for HIV as well and appropriately managed and treated including their newborns. Treatment for syphilis is penicillin, but the timing and length of treatment varies by clinical status including age and symptoms. Normal infants of women adequately treated before pregnancy do not need evaluation or treatment usually. Normal infants of women adequately treated during pregnancy and at least 4 weeks before delivery are not evaluated but are treated with one dose of penicillin. Infants of women with shorter durations of treatment or with abnormal physical examinations require more evaluation and longer durations of treatment.

Adolescents with sexually transmitted infections should be screened for syphilis as multi-organism infections are common. Syphilis has 3 stages. Primary syphilis has characteristic painless chancres at the site of primary inoculation. Secondary syphilis has symptoms similar to early congenital syphilis but especially a polymorphous rash on palms and soles, lymphadenopathy and fever. If untreated syphilis enters a latent stage and is not contagious during this time. Tertiary syphilis occurs 10-30 years after primary infection and classically has granulomatous skin growths and cardiac and neurological problems. Neurosyphilis can occur at any stage of symptomatic infection.

Learning Point
Clinical signs and symptoms of congenital syphilis include:

  • Fetal affects
    • Abortion, spontaneous
    • Still birth
    • Preterm delivery
    • Hydrops (non-immune)
    • Perinatal death
  • Early congenital syphilis or infants and children affected before 2 years of age
    • Adenopathy – especially epitrochlear nodes that are palpable
    • Dermatological findings
      • Rash – usually maculopapular and oval, it is more prominent on the palms and soles and becomes more copper- colored and has desquamation.
      • Pemphigus syphiliticus has bullous lesions that may cause cracking and peeling and wrinkling.
      • Oral mucus patches
      • Condylomata lata
    • Hepatomegaly – can occur with or without jaundice
    • Splenomegaly
    • Neurological findings – asymptomatic, cranial nerve palsies, seizures
    • Ophthalmological findings – cataract, chorioretinitis
    • Orthopaedic findings – osterochronditis, periostitis
    • Pneumonia alba
    • Rhinitis (‘snuffles”)
    • Other
      • Fever
      • Hypopituitarism and diabetes insipidus
      • Malabsorption in the gastrointestinal tract
      • Myocarditis
      • Nephrotic syndrome
      • Pancreatitis
  • Late congenital syphilis or children affected after 2 years of age
    • Dental findings – Hutchinson’s teeth*, mulberry molars
    • Rhagades – cracks in the skin particularly edges of the mouth
    • Neurological findings – cranial nerve palsies, deafness*, optic nerve atrophy, general paresis, hydrocephalus, mental retardation, seizures
    • Ophthalmological findings – healed chorioretinitis, interstitial keratitis*
    • Orthopaedic findings – facial changes including frontal bossing, saddle nose deformity, high arch palate, protuberant mandible, short maxilla, saber shins and abnormal joints

*Hutchinson’s triad of late congenital syphilis is Hutchinson’s teeth, deafness and interstital keratitis.

Questions for Further Discussion
1. Name the TORCH infections?
2. What are the most common sexually transmitted infections in your location? How common is syphilis?
3. What services are available in your community for teenage mothers?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Syphilis and Infections and Pregnancy.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Cooper JM, Sanchez PJ. Congenital syphilis. Semin Perinatol. 2018;42(3):176-184. doi:10.1053/j.semperi.2018.02.005

Heston S, Arnold S. Syphilis in Children. Infect Dis Clin North Am. 2018;32(1):129-144. doi:10.1016/j.idc.2017.11.007

Syphilis – 2018 Sexually Transmitted Diseases Surveillance. Published October 8, 2019. Accessed June 16, 2020. https://www.cdc.gov/std/stats18/syphilis.htm

Arrieta AC, Singh J. Congenital Syphilis. New England Journal of Medicine. Published online November 27, 2019. doi:10.1056/NEJMicm1904420

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa