Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 5 peer-reviewed journal articles Updated
Medical Genetics

What Are the Chances of Passing on Seckel Syndrome?

At a Glance

Because Seckel syndrome follows an autosomal recessive inheritance pattern, parents of a child with the condition are both carriers. This means there is a 25% (1 in 4) chance with each future pregnancy that the baby will inherit the condition.

Understanding how Seckel syndrome is inherited is an important step when planning to expand your family. If you already have a child with Seckel syndrome, it is completely natural to wonder about the chances of this condition occurring in a future pregnancy.

Seckel syndrome follows what is called an autosomal recessive inheritance pattern [1]. In simple terms, this means that for a child to have Seckel syndrome, they must inherit two copies of a non-working gene—one from each parent [1].

Because you have a child with Seckel syndrome, both you and your partner are considered carriers. This means that for each future pregnancy, the odds remain exactly the same:

  • A 25% (1 in 4) chance that the baby will inherit the non-working gene from both parents and have Seckel syndrome [1].
  • A 50% (2 in 4) chance that the baby will inherit one non-working gene and one working gene, making them a carrier (without symptoms), just like you and your partner [1].
  • A 25% (1 in 4) chance that the baby will inherit working copies of the gene from both parents, meaning they will neither have the syndrome nor be a carrier [1].

It is important to remember that these odds reset for every single pregnancy, much like flipping a coin. Having one child with the condition does not mean the next three pregnancies will not be affected.

Why Genetic Counseling Matters

Seckel syndrome is genetically complex and can be caused by mutations (changes) in several different genes, such as ATR, CEP152, or TRAIP [2][3]. Working with a certified genetic counselor can provide you with personalized information and outline your family planning options [4]. You can ask your child’s pediatrician for a referral to a medical geneticist or look for a counselor through professional genetics directories.

Identifying the exact gene involved in your family is a very important step. Genetic testing can pinpoint the specific genetic change responsible for your child’s condition [4][5]. Once the exact gene is known, it opens the door to proactive options, including targeted prenatal testing during a future pregnancy or preimplantation genetic testing (PGT) if you choose to use in vitro fertilization (IVF) [5].

Common questions in this guide

What is the chance of having another child with Seckel syndrome?
If both parents are carriers, there is a 25% (1 in 4) chance with each pregnancy that the baby will have Seckel syndrome. These odds reset for every single pregnancy, much like flipping a coin.
What does it mean that Seckel syndrome is autosomal recessive?
Autosomal recessive inheritance means a child must inherit two copies of a non-working gene, one from each parent, to develop the condition. If a child inherits only one non-working gene, they will be a carrier without symptoms.
Can we test for Seckel syndrome during a future pregnancy?
Yes. If the specific genetic mutation in your family has been identified, you can utilize targeted prenatal testing or preimplantation genetic testing (PGT) alongside in vitro fertilization (IVF).
Why do we need to know which gene caused our child's Seckel syndrome?
Seckel syndrome can be caused by mutations in several different genes, such as ATR, CEP152, or TRAIP. Knowing the exact genetic change responsible for your child's condition is a crucial step that allows for accurate prenatal testing in future pregnancies.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Has a specific gene mutation (like ATR or CEP152) been identified in my child, and if not, what tests are needed to find it?
  2. 2.Based on our genetic test results, what are our most reliable prenatal testing options if we become pregnant again?
  3. 3.Could you refer us to a certified genetic counselor to discuss our family planning options, including in vitro fertilization and preimplantation genetic testing (PGT)?
  4. 4.Are our unaffected children or other close relatives at risk of being carriers, and should they be tested?

Questions For You

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

Related questions

Can Adults With Seckel Syndrome Live Independently?How to Choose a Medical Specialist for Seckel SyndromeIs Growth Hormone Therapy Effective for Seckel Syndrome?What Are the Anesthesia Risks in Seckel Syndrome?Dental & Vision Issues in Seckel Syndrome: What to KnowWhat Are the Blood Risks in Seckel Syndrome?What Is Development Like in Seckel Syndrome?Seckel Syndrome vs MOPD II: Key DifferencesWhat is the Life Expectancy for Seckel Syndrome?Why Is Seckel Syndrome Called "Bird-Headed Dwarfism"?

References

References (5)
  1. 1

    Antenatal diagnosis of Seckel Syndrome: a rare case report.

    Vascone C, Di Meglio F, Di Meglio L, et al.

    Journal of prenatal medicine 2014; (8(3-4)):70-2.

    PMID: 26266004
  2. 2

    TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

    Harley ME, Murina O, Leitch A, et al.

    Nature genetics 2016; (48(1)):36-43 doi:10.1038/ng.3451.

    PMID: 26595769
  3. 3

    [Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].

    Hong L, Liu J, Wu B

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(6)):595-597 doi:10.3760/cma.j.issn.1003-9406.2019.06.016.

    PMID: 31055814
  4. 4

    Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.

    Conrad D, Stanley C, Denney J, Quinn K

    Journal of clinical ultrasound : JCU 2022; (50(3)):395-398 doi:10.1002/jcu.23040.

    PMID: 34235748
  5. 5

    Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.

    Nguyen TH, Nguyen NL, Vu CD, et al.

    Genes & genomics 2021; (43(2)):115-121 doi:10.1007/s13258-020-01032-5.

    PMID: 33460028

This page provides information on Seckel syndrome inheritance and recurrence risks for educational purposes only. Always consult a certified genetic counselor or medical geneticist for personalized family planning and genetic advice.

Get notified when new evidence is published on Seckel syndrome.

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