About Careers Internship MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

Seckel Syndrome

Last Updated on Oct 21, 2020
Font : A-A+

What is Seckel Syndrome?

Seckel syndrome is a rare genetic condition of dwarfism that involves intrauterine growth retardation (smaller size at birth), microcephaly (abnormally small head), mental handicap, short build, large eyes, narrow

Advertisement
jaw, deformed hips, bent fifth finger, and birdlike features (receding forehead and chin with beaked nose). The syndrome is observed equally in males and females. This condition is also known as bird-headed dwarfism, nanocephaly, microcephalic primordial
Advertisement
dwarfism, Seckel type primordial dwarfism, SCKL. Seckel first described this syndrome in 1960 after observing 2 cases.

Seckel Syndrome

Causes of Seckel Syndrome

Seckel syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that the chance of both the copies of the gene to get affected is rare. When one of the copies is affected, the individual is a carrier. Some of the genes that are mutated and cause Seckel syndrome are CEP152 (SCKL5), NINI (SCKL7), CEP63 (SCKL6), RBBP8 (SCKL2), ATRIP (SCKL8), and ATR (SCKL1). These genes are involved in maintaining genomic stability. Seckel syndrome also causes pancytopenia, ahematological disorder.

Symptoms / Clinical Features of Seckel Syndrome

Clinical features of Seckel syndrome include the following:

  • The circumference of the head is small for the age of the infant.
  • Associated mental retardation
Mental Retardation
  • Intrauterine growth retardation resulting in low birth weight
  • Short stature due to postnatal growth retardation
  • Defects in dentition crowding of teeth, defects in enamel development (hypoplasia)
  • Large eyes, sloped eyelids, eyes are crossed
  • Bird-like features (sloping forehead, beaked nose, unusually small jaw [micrognathia])
  • Ears with no ear lobes
  • Structural defects: Hip, forearm, elbow bone defects and dislocation.
  • In some cases, 11 pairs of ribs instead of the usual 12
  • Structural defects in the spine
  • Bent fifth finger (clinodactyly)
  • Foot in a twisted position (clubfoot)
  • Excess body hair (hirsutism)
  • Testes fail to descend into the scrotum in males
  • Abnormally large clitoris in females
  • Decrease in blood cells (pancytopenia). Less than 25% of the Seckel syndrome patients may exhibit blood cancer.

Diagnosis of Seckel Syndrome

The diagnosis of Seckel syndrome is based on the following factors:

Genetics: Family history is considered by genetic counselors to determine the chance of developing this syndrome.

Imaging of the brain: Seckel syndrome is characterized by microcephaly. It has been observed that the development of the brain is affected in the second trimester of pregnancy. When the occipitofrontal head circumference at birth is less than 2 standard deviation of the mean value based on the age, ethnicity, and gender, the child is diagnosed with Seckel syndrome.

Ultrasound: For high-risk Seckel syndrome cases, ultrasound is a good technique to detect the growth retardation of the fetus in the second trimester in the uterus. However, ultrasound is unable to detect low-risk Seckel syndrome.

Ultrasound for Seckel Syndrome

Molecular genetic testing: Molecular genetic testing may show mutations in genes that help in the diagnosis of the condition. The genetic defects are more often observed in Asia, viz. India and Pakistan.

Treatment for Seckel Syndrome

The disorders observed in Seckel syndrome range from structural deformities to blood disorders. Hematological problems such as leukemia and anemia can be treated with appropriate medication and therapy.

Mentally challenged individuals along with their families need to be given appropriate social support and counseling services.

Social Support and Counseling

Genetic analyses can be performed on the fetus if the first child is born with the syndrome and if the contributing mutation is identified. Genetic counseling of families with a family history is essential to understand the risk of having a child with Seckel syndrome.

Seckel Syndrome Life Expectancy

There is no confirmed evidence of life expectancy but individuals with Seckel syndrome are known to have a life expectancy of more than 50 years.

Health Tips

Seckel syndrome is a genetic condition that is inherited in an autosomal recessive manner. Families with a genetic history of Seckel syndrome should avoid marriages between family members to reduce the chance of this syndrome. Carriers of this syndrome should seek genetic counseling to understand the risk of transmitting the affected gene to the next generation.

References:

  1. Thompson E, Pembrey M. Seckel syndrome: an overdiagnosed syndrome. J Med Gen. 5;22,192-201.
  2. Kalay E et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011;43:23-26.
  3. Seckel syndrome - (http://www.omim.org/entry/210600)
  4. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders - (http://www.ncbi.nlm.nih.gov/books/NBK9587/)
  5. About Seckel Syndrome - (https://rarediseases.org/rare-diseases/seckel-syndrome/)

Latest Publications and Research on Seckel Syndrome

Citations   close

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Dr. Smitha S. Dutt. (2020, October 21). Seckel Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips. Medindia. Retrieved on Sep 27, 2022 from https://www.medindia.net/patients/patientinfo/seckel-syndrome.htm.

  • MLA

    Dr. Smitha S. Dutt. "Seckel Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips". Medindia. Sep 27, 2022. <https://www.medindia.net/patients/patientinfo/seckel-syndrome.htm>.

  • Chicago

    Dr. Smitha S. Dutt. "Seckel Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips". Medindia. https://www.medindia.net/patients/patientinfo/seckel-syndrome.htm. (accessed Sep 27, 2022).

  • Harvard

    Dr. Smitha S. Dutt. 2021. Seckel Syndrome - Causes, Symptoms, Diagnosis, Treatment, Health Tips. Medindia, viewed Sep 27, 2022, https://www.medindia.net/patients/patientinfo/seckel-syndrome.htm.


Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Advertisement
Recommended Reading
Advertisement
Health Topics A - Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



    Advertisement
    What's New on Medindia
    Anemia among Indian Women and Children Remains a Cause of Concern- National Family Health Survey-5
    H1N1 Influenza Prevention in Children: What Parents Need to Know
    Dietary Factors Responsible for Dihydrotestosterone (DHT) Production and Hair Loss
    View all

    Medindia Newsletters Subscribe to our Free Newsletters!
    Terms & Conditions and Privacy Policy.

    Most Popular on Medindia

    Blood - Sugar Chart Hearing Loss Calculator Find a Hospital Pregnancy Confirmation Calculator Blood Pressure Calculator How to Reduce School Bag Weight - Simple Tips Sinopril (2mg) (Lacidipine) A-Z Drug Brands in India Diaphragmatic Hernia Color Blindness Calculator
    This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use