Rothmund-Thomson Syndrome

Overview

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Is a:

Disease or Syndrome

Definition:

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.

Synonyms:

Poikiloderma Congenitale
Rothmund Thomson Syndrome
Syndrome, Rothmund-Thomson

Broader Topics:

DNA Repair-Deficiency Disorders
Infant, Newborn, Diseases
Skin Abnormalities
Skin Diseases, Genetic

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity