Conditions / Syndrome
Koolen de Vries syndrome
info · Syndrome
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_ba
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
Signs and symptoms
- Global developmental delay
- Generalized hypotonia
- Bulbous nose
- Conspicuously happy disposition
- Pear-shaped nose
- Cryptorchidism
- Epicanthus
- Upslanted palpebral fissure
- Broad forehead
- High forehead
Also known as: 17q21.31 microdeletion syndrome; KANSL1-related intellectual disability syndrome; KdVS; Koolen-De Vries syndrome