Weill-Marchesani Syndromes consist of a group of genetic mutations resulting in a similar phenotype.
WM Phenotype:
(1) eye anomalies (microspherophakia, ectopia lentis, glaucoma)
(2) short stature
(3) brachydactyly
(4) joint stiffness
(5) variable cardiac defects
The presence of eye anomalies and short stature is termed the Weill-Marchesani-like syndrome.
|
Syndrome
|
Inheritance
|
Chromosome
|
Gene
|
|
WM Syndrome 1
|
autosomal recessive
|
19p13.2
|
ADAMTS10
|
|
WM Syndrome 2
|
autosomal dominant
|
15q21
|
FBN1
|
|
WM Syndrome 3
|
autosomal recessive
|
14q24.3
|
LTBP2
|
|
WM-like
|
autosomal recessive
|
15q26.3
|
ADAMTS17
|
FBN1 = fibrillin-1
ADAMTS = A Disintegrin And Metalloproteinase with Thrombospondin motifs
LTBP2 = latent-transforming growth factor beta-binding protein 2
