Cornelia De Lange syndrome

Cornelia De Lange syndrome Relevant markers:

Absent hand/sAbsent radiusAbsent ulnaAtrial septal defect (ASD)BrachycephalyClenched hand/sClinodactyly 5th fingerDepressed nasal bridgeDilatation of gallbladderFixed flexed elbowHirsutismHypoplastic left ventricleHypoplastic noseHypoplastic radius/radiiHypoplastic ulna/sHypospadias/tulip signLong eyelashesLong philtrumLow PAPP-ALow set ear/sMicrognathia/retrognathiaMicropenisMultiple amputation/reductionNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligodactylyOligodactyly of handsOligohydramniosOverriding aortaPhalangeal hypoplasiaPolyhydramniosProminent upper lipProximally inserted thumbShort radiusShort ulnaSmall feetSmall handsSyndactyly of 2nd & 3rd toesUndescended testesSmooth/convex philtrumMandibular spurUpturned noseHypertrichosisLong hairCongenital diaphragmatic hernia (CDH)Short first metacarpal

Parents markers:

Ambiguous genitaliaCleft palateEctrodactylyHandsHeartIntrauterine growth retardation (IUGR/SGA/FGR)MicrocephalyMicromelia - armsShort limbsSyndactyly of fingersVentricular septal defect (VSD)

Incidence:

1/100000 — 9/100000

Male — Female Ratio:

1 — 1

Involved genes:
(gene — definition — chromosome)

NIPBL — 5p13, SMC1A — Xp11.22, SMC3 — 10q25.2

Inheritance mode:

AD, Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

Links:

sonoworld.com

References:

2009	Fetal Diagn Ther	Case report	Read on PubMed
2010	Prenat Diagn	Review of 37 cases	Read on PubMed
2011	J Matern Fetal Neonatal Med	Two cases and review	Read on PubMed
2012	Am J Med Genet A	Review of 54 cases	Read on PubMed
2013	Ultrasound Obstet Gynecol	Case report	Read on PubMed
2014	Prenat Diagn	Case series	Read on PubMed
2015	Ultrasound Obstet Gynecol	Summary of ultrasound markers of 7 fetuses	Read on PubMed