Conditions / Syndrome
Weaver syndrome
info · Syndrome
A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.
Signs and symptoms
- Prominent fingertip pads
- Mild intellectual disability
- Delayed CNS myelination
- Retrognathia
- Downslanted palpebral fissures
- Camptodactyly
- Thin nail
- Hoarse cry
- Accelerated skeletal maturation
- Macrotia
Also known as: WEAVER-LIKE SYNDROME; Weaver-Williams syndrome