Table 1.

Classic Schinzel-Giedion Syndrome: Clinical Diagnostic Criteria

Presence of Both Mandatory FeaturesAND Presence of ≥1 Typical Feature
Developmental delay (or hypotonia in neonates)
AND
Facial features (prominent forehead, midface retrusion, & short nose w/upturned nasal tip; see Figure 2)		Hydronephrosis
OR
≥2 of the following skeletal malformations:
  • Sclerotic skull base
  • Wide supraoccipital-exoccipital synchondroses
  • ↑ cortical density or thickness
  • Broad ribs

Adapted from Lehman et al [2008]

From: Schinzel-Giedion Syndrome

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