Miller-dieker lissencephaly syndrome

Preferred Label : Miller-dieker lissencephaly syndrome;

Symbol : MDLS;

CISMeF acronym : MDCR; MDLS; MDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MDS;

Included titles and symbols : Chromosome 17p13.3 deletion syndrome; Miller-dieker syndrome chromosome region; MDCR;

Description : Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by Schinzel, 1988). Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri. Deletion of or mutation in the LIS1 gene (PAFAH1B1; 601545) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see 607432). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; 605066).;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene syndrome caused by deletion of the lissencephaly 1 gene (LIS1, 601545) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, 605066);

Laboratory abnormalities : Cytogenetic deletion of chromosome 17p13.3; Fluorescence in situ hybridization specific probe for MDS critical region;

Prefixed ID : #247200;

Details

Origin ID

247200;

UMLS CUI

C0265219;

Automatic exact mappings (from CISMeF team)
- ASXL1 wt Allele [NCIt concept]
- Myelodysplastic Syndrome [NCIt concept]
- Myelodysplastic syndromes [Bloc CIM-11]
- PAFAH1B1 wt Allele [NCIt concept]
- SF3B1 wt Allele [NCIt concept]
- YWHAE wt Allele [NCIt concept]
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
- myelodysplastic syndromes [MedlinePlus Topic]
Currated CISMeF NLP mapping
- MDS [MedDRA LLT]
- Miller Dieker lissencephaly syndrome [Disease (Nov.)]
- Miller Dieker syndrome (disorder) [SNOMED CT concept]
- Miller-Dieker Syndrome [NCIt concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-Dieker syndrome [ICD-11 More detail]
- Miller-Dieker syndrome [MedDRA LLT]
- Miller-Dieker syndrome [ORDO Disease]
- lissencephaly syndrome, Miller-Dieker [MeSH concept]
- miller-dieker syndrome [SNOMED Notion]
DO Cross reference
- Miller-Dieker lissencephaly syndrome [DO Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Agyria [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bitemporal hollowing [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cavum septum pellucidum [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Contiguous gene syndrome [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Deep palmar crease [HPO term]
- Delayed eruption of teeth [HPO term]
- Duodenal atresia [HPO term]
- Epicanthus [HPO term]
- Epileptic spasm [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Gray matter heterotopia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile muscular hypotonia [HPO term]
- Infantile seizures [HPO term]
- Infantile spasms [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint contracture of the hand [HPO term]
- Lissencephaly [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midline brain calcifications [HPO term]
- Motor delay [HPO term]
- Omphalocele [HPO term]
- Pachygyria [HPO term]
- Pelvic kidney [HPO term]
- Polydactyly [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive spastic paraplegia [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Single transverse palmar crease [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Miller-Dieker syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MDS [MedDRA LLT]
- Miller Dieker lissencephaly syndrome [Disease (Nov.)]
- Miller Dieker syndrome (disorder) [SNOMED CT concept]
- Miller-Dieker Syndrome [NCIt concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-Dieker syndrome [ORDO Disease]
- Miller-Dieker syndrome [ICD-11 More detail]
- Miller-Dieker syndrome [MedDRA LLT]
- lissencephaly syndrome, Miller-Dieker [MeSH concept]
- miller-dieker syndrome [SNOMED Notion]

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