Seckel Syndrome
Seckel Syndrome 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.
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.
Seckel Syndrome 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
Seckel Syndrome Treatment
There is still no known specifically established treatment for Seckel Syndrome; however there are symptomatic and supportive measures for symptoms of the disorder.