chromosome 18q deletion syndrome

info · Genetic · ICD-10: Q93.5

A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.

Signs and symptoms

Thin upper lip vermilion
Hypotonia
Intellectual disability
Recurrent respiratory infections
Aortic valve stenosis
Epicanthus
Toe syndactyly
Delayed CNS myelination
Failure to thrive in infancy
Short stature

Also known as: 18q- syndrome; deletion 18q; monosomy 18q