Diseases

Rt Syndrome (Congenital Poikiloderma)

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These skin problems persist for life and are collectively known as poikiloderma. Rothmund-thomson syndromeis also characterized by sparse hair, eyebrows, and eyelashes; slow growth and small stature; abnormalities of the teeth and nails; and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting.

Characteristics :
sun-sensitive rash with prominent poikiloderma and telangiectasias
juvenile cataracts
saddle nose
congenital bone defects, including short stature and radial ray anomalies such as absent thumbs
hair growth problems (absent eyelashes, eyebrows and/or hair)
hypogonadism has not been well documented
hypodontia
calcium problems (not documented in journals)
ear problems (not documented in journals but identified by patients in support groups)
produces osteosarcoma
Rts is caused by a mutation of the recql4 gene, located at chromosome 8q24.3. The Disorder is inherited in an autosomal recessive manner.[3] this means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.