Seckel Syndrome

Original Editor - User: Sukhi Dhaliwal
Top Contributors - Sukhi Dhaliwal, Kim Jackson and Vidya Acharya

Definition[edit | edit source]

Seckel Syndrome also known as microcephalic primordial dwarfism is an extremely rare congenital disorder. This condition is a heterogenous, autosomal recessive disorder. It has been linked to harmful changes in genes that are responsible for maintaining genomic stability. The onset is prenatal and continues postnatally causing severe microcephaly, a bird like face, dwarfism and severe intellectual disability.[1][2]

Prevalence[edit | edit source]

Seckel Syndrome is a rare genetic disorder that affects about <1 in 1 00 000 individuals. It affects males and females equally. There is no confirmed evidence of life expectancy in individuals with Seckel Syndrome.

Etiology[edit | edit source]

Seckel Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel Syndrome caused by gene mutations on multiple chromosomes.

  • Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (ATR) gene
  • Seckel syndrome 2: RB binding protein 8 (RBBP8) gene
  • Seckel syndrome 4: centromere protein J (CENPJ) gene
  • Seckel syndrome 5: centrosomal protein 152 (CEP152) gene
  • Seckel syndrome 6: centrosomal protein 63 (CEP63) gene
  • Seckel syndrome 7: ninein (NIN) gene
  • Seckel syndrome 8: DNA 2 protein (DNA2) gene
  • Seckel syndrome 9: ATR interacting protein (ATRIP) gene
  • Seckel syndrome 10: SMC5-SMC6 complex SUMO ligase (NSMCE2) gene

[1][3]

Characteristics/Clinical Presentation[edit | edit source]

  • Low birth weight
  • Dwarfism
  • Microcephaly
  • Large eyes
  • Large prominent nose with beak like protrusion
  • Narrow face
  • Small brain size
  • Clubfoot
  • Scoliosis
  • Cross eyed
  • Underdeveloped thumbs
  • Dislocation of the heads of the femurs head out of the acetabulum
  • Malformation of genitourinary system
  • Intellectual disability (IQ below 50)

[2][1]

Diagnostics[edit | edit source]

Seckel Syndrome can be diagnosed via:

Genetic testing: used to diagnose pre or postnatally, family history is considered by genetic counselors to determine the chance of developing this syndrome.

Ultrasound: For high risk cases, ultrasound can be used to detect growth delays in the second trimester of the fetus. Seckel syndrome is suspected if a fetus has a small head, slow growth and changes to the head and face associated to the condition.

In some cases a diagnosis may not be confirmed until the child grows older and exhibits delays in development associated with intellectual disability or height. [1]

Medical Management[edit | edit source]

Thee is no cure for Seckel Syndrome. Treatment is supportive. Therapeutic and Medical management mostly focuses on treating associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia) and providing appropriate social support and counselling services for the individual and the family.

References[edit | edit source]

  1. 1.0 1.1 1.2 1.3 National Organization for Rare Disorders (NORD). Seckel Syndrome. Accessed 29/March/2022)
  2. 2.0 2.1 James Wynbrandt, Mark Ludman. SC Syndrome. In: The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing.FEB 2008. p344
  3. OMIM - Online Mendelian Inheritance in Man. SECKEL SYNDROME 1; SCKL1. Available from: https://omim.org/entry/210600?search=210600&highlight=210600(accessed 29/March/2022)