Conditions / Genetic
chromosome 18p deletion syndrome
info · Genetic
A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
Signs and symptoms
- Hypotonia
- Depressed nasal ridge
- Delayed speech and language development
- Wide nasal bridge
- Ptosis
- Micrognathia
- Hypertelorism
- Macrotia
- Anteverted nares
- Dystonia
Also known as: 18p- syndrome; De Grouchy syndrome; monosomy 18p