Conditions / Genetic
chromosome 22q11.2 deletion syndrome, distal
info · Genetic
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
Signs and symptoms
- Smooth philtrum
- Intrauterine growth retardation
- Highly arched eyebrow
- Underdeveloped nasal alae
- Global developmental delay
- Pointed chin
- Short stature
- Malar flattening
- Thin upper lip vermilion
- Deeply set eye
Also known as: DiGeorge syndrome and Velocardiofacial syndrome; distal 22q11.2 microdeletion syndrome