Seckel Syndrome is an inherited form of primordial dwarfism, meaning that an infant starts out very small and fails to grow normally after birth. While people with Seckel syndrome will typically be proportionate in scale, they will have distinctively small head size, and blood disorders. Intellectual disabilities are also common. Despite an array of physical and mental challenges facing a person with Seckel syndrome, many have been known to live well into their 50s.
Seckel Syndrome is a recessive genetic disorder that occurs when an individual inherits the same abnormal gene for the same trait from each parent. It is caused by a mutation of genes on three different chromosomes (“Seckel Syndrome”). Chromosomes carry the genetic information for each individual. Pairs of chromosomes are numbered from 1 through 22. Each chromosome has a short arm “p” and a long arm “q”. They are also further sub-divided into many bands that are numbered. For example, “chromosome 2q19-q22” refers to a region between 19 and 22 on the long arm of chromosome 2. The gene involved in Seckel syndrome 1 is known as the ataxia-telangiectasia and Rad3-related protein (ATR) gene. The protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis and can promote DNA repair, recombination, and apoptosis (“ATR gene”).
Treatments of Seckel syndrome focus on any medical problems that arise, especially blood disorders (“Seckel syndrome”). Mentally challenged individuals would need to receive social support and counseling services.
“ATR Protein.” NIH, National Institute of Health, 26 Feb. 2019, ghr.nlm.nih.gov/gene/ATR#conditions.
“Seckel syndrome.” NIH, National Institute of Health, rarediseases.info.nih.gov/diseases/8562/seckel-syndrome.
“Seckel Syndrome.” NORD, National Organization for Rare Disorders, 2007, rarediseases.org/rare-diseases/seckel-syndrome/.