Seckel Syndrome
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.