Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients Caregivers Providers
Log In Ask a Question
PubMed This is a summary of 17 peer-reviewed journal articles Updated
Pediatric Surgery

Treating MKKS in the First Weeks of Life: Surgery and Care

At a Glance

In the first weeks of life, treating McKusick-Kaufman Syndrome (MKKS) prioritizes urgent issues like hydrometrocolpos, which requires emergency surgery to prevent kidney damage. Heart health is evaluated immediately, while polydactyly surgery is safely delayed until the infant is older.

The first few weeks with a baby diagnosed with McKusick-Kaufman Syndrome (MKKS) can feel like a whirlwind of specialists and surgical consults. While the combination of symptoms may seem overwhelming, your medical team will prioritize treatments based on what is most urgent for your baby’s health and safety [1][2].

The Immediate Priority for Girls: Hydrometrocolpos (HMC)

For female infants, the most urgent feature of MKKS is often hydrometrocolpos (HMC). This is a condition where a blockage in the vagina causes fluid to build up in the vagina and uterus [3][2].

  • The Cause: During pregnancy, natural maternal hormones (estrogens) pass to the baby. These hormones stimulate the baby’s cervical and uterine glands to produce mucus [3][1]. In MKKS, there is often a structural blockage—such as a transverse vaginal septum (a wall of tissue) or vaginal atresia (where a section of the vagina is missing)—that prevents this fluid from draining [2][4].
  • Why It Is an Emergency: As the fluid builds up, it creates a large mass in the baby’s small pelvis. This mass can press against the ureters (the tubes that carry urine from the kidneys to the bladder) and the bladder itself [5][6]. If left untreated, this pressure can cause hydronephrosis (swelling of the kidneys) and potentially lead to kidney damage or serious infections [5][7].
  • The Procedure and Recovery: To relieve the pressure, a surgeon (usually a pediatric urologist or pediatric surgeon) will perform a procedure to drain the fluid [8]. If it is a complex blockage like atresia or a thick septum, the initial surgery may simply drain the fluid, with a more involved reconstructive surgery planned for later [4][9]. Following the drainage procedure, babies typically spend a few days to a few weeks recovering in the NICU, depending on how quickly their kidney function normalizes [8][10].

Managing Polydactyly

While the “extra” fingers or toes (polydactyly) are the most visible part of MKKS, they are not a medical emergency [11][12].

  • Timing: Surgery to remove the extra digits is elective. Most surgeons prefer to wait until the baby is older—often between 6 and 12 months of age—to allow the baby to grow and make anesthesia safer [11].
  • Type A vs. Type B: If the extra digit is fully formed with bone and a joint (Type A), it requires a formal surgical procedure [11][13]. If it is just a small, floppy piece of skin (Type B), it is sometimes managed with a simpler excision [11][14].

Assessing Heart Health

Many babies with MKKS are born with congenital heart defects [3][15]. These vary widely in severity. Some babies may have a small hole in the heart that will close on its own, while others may require medication or surgery [1][15].

Your baby will likely have an echocardiogram (a heart ultrasound) shortly after birth to see how the heart is structured and pumping [4]. They may also have an EKG (electrocardiogram) to check the electrical rhythm of the heart [16]. A pediatric cardiologist will use these results to determine if any immediate treatment is necessary [1][16].

The Path Forward

The first goal of the medical team is “stabilization”—making sure the kidneys are protected and the heart is healthy [2][5]. Once the hydrometrocolpos is drained and any heart issues are managed, the focus shifts to long-term care and planning for elective procedures like polydactyly removal [17][8]. Although this is a stressful start, these early interventions are designed to give your child the best possible foundation for a healthy life.

Common questions in this guide

What is hydrometrocolpos in babies with MKKS?
Hydrometrocolpos is a condition where fluid builds up in a baby's vagina and uterus because a structural blockage prevents it from draining. In MKKS, this occurs when maternal hormones stimulate fluid production that gets trapped by a vaginal septum or atresia.
Why does hydrometrocolpos need immediate surgical drainage?
The trapped fluid creates a large mass that presses against the baby's bladder and ureters. If left untreated, this pressure causes the kidneys to swell, potentially leading to permanent kidney damage or serious infections.
When will my baby's extra fingers or toes be removed?
Removing extra fingers or toes is not a medical emergency and is usually scheduled as an elective surgery. Most surgeons prefer to wait until the baby is between 6 and 12 months old to allow for growth and make anesthesia safer.
How is heart health evaluated in newborns with MKKS?
Doctors will typically perform an echocardiogram, which is an ultrasound of the heart, to examine its structure and function. They may also use an EKG to check the heart's electrical rhythm and determine if any immediate treatment is needed.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the exact anatomical cause of the hydrometrocolpos (e.g., septum, atresia), and how complex will the reconstructive surgery be?
  2. 2.Are there signs of hydronephrosis or kidney compression on the ultrasound?
  3. 3.What is the estimated recovery time in the NICU after the hydrometrocolpos is drained?
  4. 4.Did the EKG show any rhythm abnormalities alongside the structural findings on the echocardiogram?
  5. 5.Is the polydactyly a 'Type A' or 'Type B' and what is the typical age you recommend for its removal?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (17)
  1. 1

    McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling.

    Khanke S, Agrawal A, Toshniwal V, et al.

    Cureus 2023; (15(4)):e37808 doi:10.7759/cureus.37808.

    PMID: 37214064
  2. 2

    Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.

    Adam A, Hellig J, Mahomed N, Lambie L

    Urology 2017; (103()):224-226 doi:10.1016/j.urology.2017.01.024.

    PMID: 28153592
  3. 3

    A case of hydrometrocolpos and polydactyly.

    Sharma D, Murki S, Pratap OT, et al.

    Clinical medicine insights. Pediatrics 2015; (9()):7-11 doi:10.4137/CMPed.S20787.

    PMID: 25635170
  4. 4

    The incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.

    AbouZeid AA, Sallam DE, Samak NM, et al.

    Journal of pediatric urology 2025; (21(6)):1902-1911 doi:10.1016/j.jpurol.2025.04.016.

    PMID: 40340192
  5. 5

    Successful management of giant hydrocolpos in a limited-resource setting.

    Reggiani G, Pizzol D, Trevisanuto D, Antunes M

    Oxford medical case reports 2018; (2018(7)):omy031 doi:10.1093/omcr/omy031.

    PMID: 29992032
  6. 6

    Imperforate Hymen: A Rare Cause of Abdominopelvic Mass in an Infant.

    Dixit Thapa B, Regmi MC

    Journal of Nepal Health Research Council 2021; (19(1)):201-202 doi:10.33314/jnhrc.v19i1.2927.

    PMID: 33934160
  7. 7

    Congenital vaginal obstruction in a newborn.

    Osman NM, Hamza AM, Elamin HAM

    Sudanese journal of paediatrics 2019; (19(2)):145-148 doi:10.24911/SJP.106-1543747330.

    PMID: 31969743
  8. 8

    Bedside Intervention for Neonatal Hydrometrocolpos and Imperforate Hymen.

    Nicassio LN, Cheng JW, Cain MP

    Urology 2022; (160()):191-194 doi:10.1016/j.urology.2021.11.016.

    PMID: 34838824
  9. 9

    MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.

    AbouZeid AA, Elhady HE, Mohammad SA, et al.

    European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2026; (36(2)):102-110 doi:10.1055/a-2680-6011.

    PMID: 40795933
  10. 10

    Congenital imperforate hymen in a newborn presenting with vaginal protrusion and abdominal distension: a rare case report.

    Almoustafa F, Almustafa NE, Farag A, et al.

    Journal of surgical case reports 2026; (2026(2)):rjag047 doi:10.1093/jscr/rjag047.

    PMID: 41658485
  11. 11

    Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants.

    Bjorklund KA, O'Brien M

    Hand (New York, N.Y.) 2022; (17(6)):1286-1291 doi:10.1177/1558944721994255.

    PMID: 33631987
  12. 12

    Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

    Yared G, Ghazal K, Younis A, et al.

    SAGE open medical case reports 2024; (12()):2050313X241282215 doi:10.1177/2050313X241282215.

    PMID: 39314219
  13. 13

    The CoULD Ulnar Polydactyly Classification: A Multicenter Analysis.

    Mendenhall SD, Cordray H, Steinman SE, et al.

    Plastic and reconstructive surgery 2025; doi:10.1097/PRS.0000000000012224.

    PMID: 40489747
  14. 14

    Long-Term Outcomes After Treatment for Type B Ulnar Polydactyly.

    Goebel GJ, Dawson S, Loewenstein SN, Adkinson JM

    Journal of pediatric orthopedics 2022; (42(5)):e466-e469 doi:10.1097/BPO.0000000000002106.

    PMID: 35220338
  15. 15

    Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.

    Thorat JV, Tambolkar S

    Cureus 2024; (16(6)):e61957 doi:10.7759/cureus.61957.

    PMID: 38978907
  16. 16

    Inpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure.

    Wang X, Yu J, Yue H, et al.

    Molecular neurobiology 2024; (61(9)):6189-6199 doi:10.1007/s12035-024-03946-7.

    PMID: 38285286
  17. 17

    A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.

    Mahmood SH, Khan M, Qadar LT, et al.

    Cureus 2019; (11(9)):e5717 doi:10.7759/cureus.5717.

    PMID: 31720185

This page provides educational information about early interventions for McKusick-Kaufman syndrome. It is not a substitute for professional medical advice, and you should always consult your pediatric specialists regarding your baby's specific care plan.

Get notified when new evidence is published on McKusick-Kaufman syndrome.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.