Rothmund-Thomson Syndrome: A syndrome which is characterized by atrophy, pigmentation and telangiectasia of the skin. More detailed information about the symptoms, causes, and treatments of Rothmund-Thomson Syndrome is available below.
See full list of 20 symptoms of Rothmund-Thomson Syndrome
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Research the causes of these diseases that are similar to, or related to, Rothmund-Thomson Syndrome:
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Types of Rothmund-Thomson Syndrome
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An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism. - (Source - Diseases Database)
Rothmund-Thomson Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Rothmund-Thomson Syndrome, or a subtype of Rothmund-Thomson Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Rothmund-Thomson Syndrome as a "rare disease".
Source - Orphanet
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