Table 5.

Other Acromelic Dysplasias to Consider in the Differential Diagnosis of Weill-Marchesani Syndrome (WMS)

Gene(s)DiffDx DisorderMOIClinical Features of DiffDx Disorder
Overlapping w/WMSDistinguishing from WMS
ADAMTSL2
FBN1
LTBP3 		Geleophysic dysplasia AD
AR		Short stature; brachydactyly; stiff joints; delayed bone age; cone-shaped phalangeal epiphyses; thickened skin; heart diseaseHepatomegaly; no lens abnormalities
FBN1
LTBP3 1		Acromicric dysplasia (OMIM 102370)ADNo lens abnormalities
SMAD4 Myhre syndrome AD 2IUGR; short stature; brachydactyly; joint stiffness; thickened skin; heart diseaseHearing loss; characteristic facial features; variable degree of cognitive impairment; no lens abnormalities

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; IUGR = intrauterine growth restriction; MOI = mode of inheritance

1.
2.

All probands with Myhre syndrome reported to date have had a de novo SMAD4 pathogenic variant.

From: Weill-Marchesani Syndrome

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