Table 2.

Autosomal Dominant Disorders with Macrocephaly and Intellectual Disability to Consider in the Differential Diagnosis of EED-Related Overgrowth

DiffDx DisorderGeneClinical Features of Disorder
Overlapping w/EED-
related overgrowth		Distinguishing from EED-
related overgrowth
EZH2-related overgrowth
(includes
Weaver
syndrome)		 EZH2
  • Macrosomia
  • Craniofacial dysmorphism
  • Advanced bone age
  • Cancer predisposition
  • Less frequent cervical spine anomalies
SUZ12-related
overgrowth 1		 SUZ12
  • Postnatal overgrowth
  • Craniofacial dysmorphism
  • Advanced bone age
  • Prenatal overgrowth apparently less severe
  • Postnatal overgrowth apparently more severe
Sotos syndrome NSD1
  • Macrosomia
  • Craniofacial dysmorphism
  • Advanced bone age
Cancer predisposition
NFIX-related Malan syndrome NFIX
  • Macrosomia
  • Craniofacial dysmorphism
  • Advanced bone age
  • Cancer predisposition
  • Less frequent cervical spine anomalies
HIST1H1E syndrome HIST1H1E
  • Neonatal hypoglycemia
  • Camptodactyly
  • Kyphoscoliosis
Neonatal hypertonia
Beckwith-Wiedemann syndrome CDKN1C
  • Macrosomia
  • Neonatal hypoglycemia
  • Umbilical hernia
  • Cancer predisposition
  • Organomegaly
  • Macroglossia
PTEN hamartoma tumor syndrome PTEN
  • Macrocephaly
  • Intellectual disability
  • Cancer predisposition
  • Mucocutaneous lesions

From: EED-Related Overgrowth

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