Seckel Syndrome

Type of Primordial Dwarfism

Pensive pregnant woman holding stomach in examination room
Learn about Seckel Syndrome. Hero Images / Getty Images

Seckel syndrome is an inherited form of primordial dwarfism, meaning that the infant starts out very small in the womb (intrauterine growth retardation) and does not grow normally after birth. Seckel syndrome is inherited in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature.

Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related.


Seckel syndrome has distinct physical symptoms, including:

  • very small at birth (average birth weight is 1,540 g or about 3.3 pounds)
  • extremely small proportionate stature (dwarfism)
  • very small head (microcephaly)
  • "beak-like" protrusion of the nose
  • narrow face
  • malformed ears
  • unusually small jaw (micrognathia)
  • mental retardation, often severe (IQ less than 50)

Other symptoms may include abnormally large eyes, high arched roof of the mouth (palate), tooth malformation, and other bone abnormalities. Sometimes blood disorders such as anemia, not enough blood cells (pancytopenia), or acute myeloid leukemia (blood cancer) may develop.


Diagnosis of Seckel syndrome is based on recognizing the physical symptoms. Sometimes x-rays may need to be done to distinguish Seckel syndrome from other similar conditions.

There is no lab test or genetic test specific for diagnosing the syndrome.


Treatment of Seckel syndrome focuses on any medical problems that may be present, especially blood disorders. Families will need help managing the problems related to severe mental retardation.


Faivre, Laurence, & Valerie Cormier-Daire.

"Seckel syndrome." Orphanet encyclopedia. Apr 2005. Orphanet. 6 Aug 2008

"Seckel Syndrome." Index of Rare Diseases. National Organization for Rare Disorders. 6 Aug 2008

Faivre, L., M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A.B. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich, & V. Cormier-Daire. "Clinical and genetic heterogeneity of Seckel syndrome." American Journal of Medical Genetics 112(2002): 379-383.

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