Conditions / Syndrome
Miller-Dieker lissencephaly syndrome
info · Syndrome · ICD-10: Q93.88
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
Signs and symptoms
- Short nose
- Intellectual disability
- Lissencephaly
- Motor delay
- Thick upper lip vermilion
- Micrognathia
- Wide nasal bridge
- Posteriorly rotated ears
- Frontal bossing
- Cavum septum pellucidum
Also known as: MDS; Miller-Dieker syndrome