Table 2.

Disorders Interest in the Differential Diagnosis of Saul-Wilson Syndrome

DiffDx DisorderCauseMOIFeatures of DiffDx Disorder
Overlapping w/SWSDistinguishing from SWS
Silver-Russell syndrome Chromosome 11p15.5- or chromosome 7-relatedSee footnote 1.Short stature (largely prenatal onset w/no postnatal catch-up growth); relative macrocephaly w/enlarged anterior fontanelle; frontal prominence; blue sclerae; ivory epiphysesLimb-length asymmetry, multiple café au lait spots, & hypoglycemia; no spondyloepimetaphyseal changes, ocular signs, hearing loss, neutropenia, or ↑ transaminases
Osteogenesis
imperfecta (See COL1A1/2 Osteogenesis Imperfecta.)		COL1A1
COL1A2
(>15 genes) 2		AD 2Blue sclerae; bone fragility; hearing lossDentinogenesis imperfecta; no spondyloepimetaphyseal changes, cataracts, retinal degeneration, neutropenia, or ↑ transaminases
Microcephalic osteodysplastic primordial dwarfism type II PCNT ARProfound prenatal-onset short stature; microcephaly; low-hanging columella; thin bones w/metaphyseal widening; metacarpal pseudoepiphyses; ivory epiphysesVascular issues; no shortening of distal phalanges or frontal prominence
Wiedemann-
Rautenstrauch syndrome (OMIM 264090)		 POLR3A AREarly progeroid features; poor growth; frontal prominence; delayed closure of anterior fontanelle; prominent scalp veins; convex nasal ridge; thin vermilion of upper lipIntellectual disability 3; no shortening of distal phalanges
Hallermann-
Streiff syndrome (OMIM 234100)		UnknownUnknownShort stature; cataracts; micrognathia; prominent scalp veins; slender diaphysesDistinct facial gestalt (e.g., characteristic thin nose & more pronounced micrognathia)
Floating-Harbor syndrome SRCAP ADProfound prenatal-onset short stature; low-hanging columella; thin vermilion of upper lip; speech delayDistinct facial gestalt (e.g., distinctive prominent nose)

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; MOI = mode of inheritance; SWS = Saul-Wilson syndrome

1.

In most families, a proband with SRS represents a simplex case (a single affected family member) and has SRS as the result of an apparent de novo epigenetic or genetic alteration (e.g., loss of paternal methylation at the H19/IGF2 imprinting center 1 or maternal uniparental disomy for chromosome 7).

2.

The majority of individuals diagnosed with osteogenesis imperfect (OI) have the disorder as the result of a pathogenic variant in COL1A1 or COL1A2. COL1A1/2-OI is inherited in an autosomal dominant manner. OI caused by pathogenic variants in other genes (see OMIM PS166200) may be associated with autosomal recessive, autosomal dominant, or X-linked inheritance.

3.

Intellectual disability is not typically observed in Saul-Wilson syndrome.

From: Saul-Wilson Syndrome

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