Table 2. [EZH2-Related Overgrowth: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Overgrowth	91%	Incl tall stature (almost uniform finding) &/or macrocephaly
Neurologic features	True prevalence unknown	Reported findings incl ventriculomegaly, periventricular leukomalacia, & polymicrogyria
Tone abnormalities	Hypotonia (47%)	Several persons presented w/mixed tone (peripheral hypertonia & central hypotonia).
Hypertonia (27%)
Cognitive issues	85%	Mild ID: 58% Moderate ID: 22% Severe ID: 5% Unclassified ID: 15%
Neurobehavioral issues	Rare	Incl autistic features, phobias, & anxiety (all anecdotally reported)
Skeletal features	Scoliosis (22%)	Adult boutonniere deformity & talipes equinovarus have also been anecdotally reported.
Advanced bone age (100%)
Camptodactyly (44%)
Connective tissue abnormalities	Umbilical hernia (49%)	Ligamentous laxity is also anecdotally common, but true prevalence is unknown.
Soft, doughy skin / excessive loose skin (52%)
Poor feeding	36%
Hoarse, low-pitched cry	46%
Tumors	Neuroblastoma (<1%)	Other reported malignancies incl: ¹ Neuroblastoma & acute lymphoblastic leukemia Lymphoma Acute myeloid leukemia

Feature

% of Persons w/Feature

Comment

Overgrowth

91%

Incl tall stature (almost uniform finding) &/or macrocephaly

Neurologic features

True prevalence unknown

Reported findings incl ventriculomegaly, periventricular leukomalacia, & polymicrogyria

Tone abnormalities

Hypotonia (47%)

Several persons presented w/mixed tone (peripheral hypertonia & central hypotonia).

Hypertonia (27%)

Cognitive issues

85%

Mild ID: 58%
Moderate ID: 22%
Severe ID: 5%
Unclassified ID: 15%

Neurobehavioral issues

Rare

Incl autistic features, phobias, & anxiety (all anecdotally reported)

Skeletal features

Scoliosis (22%)

Adult boutonniere deformity & talipes equinovarus have also been anecdotally reported.

Advanced bone age (100%)

Camptodactyly (44%)

Connective tissue abnormalities

Umbilical hernia (49%)

Ligamentous laxity is also anecdotally common, but true prevalence is unknown.

Soft, doughy skin / excessive loose skin (52%)

Poor feeding

36%

Hoarse, low-pitched cry

46%

Tumors

Neuroblastoma (<1%)

Other reported malignancies incl: ¹

Neuroblastoma & acute lymphoblastic leukemia
Lymphoma
Acute myeloid leukemia

From: EZH2-Related Overgrowth

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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