Weill-Marchesani syndrome


Also found in: Acronyms.

Weill-Mar·che·sa·ni syn·drome

(vīl mahr-kā-sah'ne), [MIM*277600]
ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance.

Weill-Mar·che·sa·ni syn·drome

(vīl mahr-kā-sah'ne), [MIM*277600]
ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance.

Weill-Marchesani syndrome

[vīl mär·kə·sä′nē]
Etymology: Georges Weill, French ophthalmologist, 1866-1952; Oswald Marchesani, German ophthalmologist, 1900-1952
a congenital disorder of connective tissue, autosomal dominant or recessive, characterized by brachycephaly, shortened digits, short stature with broad chest and heavy musculature, reduced joint mobility, and a variety of ocular defects. Also called Marchesani's syndrome.

Weill-Marchesani syndrome

Spheroplakia-brachymorphia An AR connective tissue disorder characterized by short stature, joint stiffness, myopia, subluxation of small, rounded lens–microspherophakia, ectopia lentis, glaucoma, brachydactyly, brachycephaly

Weill-Mar·che·sa·ni syn·drome

(vīl'mahr-kĕ-sah'nē sin'drōm)
Ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; recessive autosomal inheritance.

Marchesani,

Oswald, German ophthalmologist, 1900-1952.
Marchesani syndrome - recessive autosomal inheritance disorder. Synonym(s): Weill-Marchesani syndrome
Weill-Marchesani syndrome - Synonym(s): Marchesani syndrome

Weill,

Georges, French ophthalmologist, 1866-1952.
Weill syndrome - Synonym(s): Adie syndrome
Weill-Marchesani syndrome - Synonym(s): Marchesani syndrome
References in periodicals archive ?
Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.