Miller-Dieker lissencephaly syndrome true NCI:C124852 This clinical syndrome may arise from a microdeletion in chromosome 17p (17p13.3 microdeletion) or from other chromosomal abnormalities (e.g. translocations, ring chromosome, contiguous deletions) affecting 17p. The LIS1 gene is located on 17p and this syndrome includes the presence of classical (type 1) lissencephaly. The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly rotated ears, sunken appearance in the middle of the face, widely spaced eyes, and hypertelorism. The forehead is prominent with bitemporal hollowing. Most (80%) of cases are sporadic, with 20% of cases inherited from an unaffected parent with a balanced translocation. Renal malformations and omphalocele have also been reported. DOID:0060469 UMLS_CUI:C0265219 elvira MDS ICD10CM:Q93.88 Miller dieker syndrome (del 17p) MESH:D054221 2015-11-17T16:22:00Z disease_ontology OMIM:247200 Miller-Dieker syndrome A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. ORDO:531 SNOMEDCT_US_2018_03_01:43849007 chromosomal anomaly