Seckel Syndrome

Is also known as Bird-Headed Dwarfism, Seckel Type Dwarfism, Nanocephalic Dwarfism, and Microcephalic Primordial Dwarfism.

How common is Seckel Syndrome?

How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in medical literature/reports.

What causes Seckel Syndrome?

Seckel syndrome has been linked to genetic mutations on chromosomes 3, 18, and 14.

Is Seckel Syndrome inherited?

Seckel syndrome is inherited in an autosomal recessive pattern. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous (related by blood; descended from a common ancestor).

What are the physical characteristics of Seckel Syndrome?

The findings include:

• 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)
• low intelligence, often severe (IQ less than 50)
• Others may include:
• abnormally large eyes
• high arched roof of the mouth (palate)
• tooth malformation,
• other bone abnormalities
• Blood disorders such as
• anemia
• pancytopenia - not enough blood cells
• acute myeloid leukemia (blood cancer) may develop

References:

The following are case studies that can be referred to by medical professionals, to help establish a diagnosis:

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.