Rothmund-Thomson syndrome

(redirected from Rothmund-Thompson syndrome)

Roth·mund syn·drome

(rot'mūnd),
atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth, hypogonadism; autosomal recessive inheritance.

Rothmund-Thomson syndrome

[rot′moo͡nd tom′son]
Etymology: August von Rothmund, Jr., German physician, 1830-1906; Mathew Sidney Thomson, English dermatologist, 1894-1969
an autosomal-recessive syndrome, occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques and often accompanied by juvenile cataracts; saddle nose; congenital bone defects; disturbances in the growth of hair, nails, and teeth; and hypogonadism. Also called poikiloderma congenitale.

Rothmund-Thomson syndrome

(rŏth′mŏnd″tŏm′sĭn),

RTS

A rare autosomal recessive disease in which helicase is formed abnormally. Children affected by RTS have poikiloderma; deformities of bone, nails, and hair; premature aging; and a predisposition to cancer.

Rothmund,

August von, German physician, 1830-1906.
Rothmund syndrome - atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth and hypogonadism. Synonym(s): poikiloderma atrophicans and cataract; poikiloderma congenitale; Rothmund-Thomson syndrome
Rothmund-Thomson syndrome - Synonym(s): Rothmund syndrome

Thomson,

Matthew Sidney, English dermatologist, 1894-1969.
Rothmund-Thomson syndrome - Synonym(s): Rothmund syndrome