Chromosome: 7q35-q36
Gene: EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit
Inheritance: many cases have occurred sporadically
Clinical features:
(1) tall stature
(2) facial features (broad forehead, hypertelorism, long philtrum, retrognathia, large ears, horizontal chin crease, macrocephaly, almond-shaped palpebral fissures)
(3) variable intellectual disability
(4) skeletal features (clinodactyly, pectus deformity, scoliosis, talipes equinovarus, camptodactyly)
(5) variable behavioral issues (attention deficit, tantrums)
(6) variable genitourinary abnormalities
(7) variable congenital cardiac abnormalities
(8) variable ophthalmological abnormalities (strabismus, hypermetropia)
(9) variable cutaneous abnormalities (hemangiomas, caf
(10) variable hearing loss
(11) variable risk for tumors
(12) accelerated bone maturation
(13) hoarse, low-pitched voice
(14) variable cleft palate
Phenotypic features overlap with Sotos syndrome and a patient may need to be tested for both conditions.
