Definition:
Seckel syndrome is a rare medical condition marked by fetal and postnatal growth retardation, mental retardation and characteristic or distinguishing facial features.
Treatment:
There is still no known specifically established treatment for Seckel Syndrome; however there are symptomatic and supportive measures for symptoms of the disorder.
Symptoms and Signs:
Individuals suffering from Seckel Syndrome may present some or all of the following symptoms:
* Low birth weight in newborns
* Head smaller than the average size for the person's age and sex (microcephaly)
* More than half of the patients suffering from Seckel syndrome exhibit lower than 50 IQ scores.
* Pelvis and elbow dislocations
* Reduced levels of white and red blood cells and also platelets (pancytopenia).
* Dwarfism or short stature
* Absence of one or more testes in the scrotum (cryptorchidism)
* Extraordinarily large eyes
* Small chin
* Low ears
* Abnormal facial symmetry
* Failure to grow
* Nose that looks like a beak
* Club foot
* Absence of some teeth
* Joint defects
* Sparse hair
* Trident hands
* Sweet disposition
Causes:
Seckel syndrome is caused by defect on genes on chromosomes 3 and 18. Other cases of Seckel syndrome is claimed to be caused by mutation in the gene encoding ataxia-telangiectasia and RAD-3 related protein, which maps to chromosome 3q22. 1q24, which is responsible in the damage response and repair mechanism of the cell's DNA.
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