Simpson-Golaby-Behmel syndrome

Simpson-Golaby-Behmel syndrome Relevant markers:

Asymmetry of limbsDandy Walker malformationHepatomegalyHigh AFPHypospadias/tulip signLarge kidney/sMacroglossiaMacrosomiaMicrognathia/retrognathiaMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphalocelePolydactylyPolyhydramniosProminent foreheadRenalSingle umblical artery (SUA)Thick placentaUndescended testesCongenital diaphragmatic hernia (CDH)

Parents markers:

Abnormal head shapeAgenesis of corpus callosum (ACC)BrainCleft lipCleft palateGenitalsHeartIntrauterine growth retardation (IUGR/SGA/FGR)MacrocephalyPyelectasis/hydronephrosisShort limbsSyndactyly of toesVisceromegaly

Incidence:

- — 1/100000

Involved genes:
(gene — definition — chromosome)

11p15.5, GPC3 — Xp26, ICR1 — 7p11.2

Inheritance mode:

Hypomethylation, X-linked

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

1995	Fetal Diagn Ther	Case report	Read on PubMed
2009	Fetal Diagn Ther	Case report	Read on PubMed
2011	Eur J Med Genet	Case report	Read on PubMed
2016	Am J Med Genet A	Case report and review of literature	Read on PubMed