Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome Relevant markers:

Agenesis of vermisAnteverted nostrilsBitemporal narrowingCataractClenched hand/sClinodactyly 5th fingerFacial cleftHypertelorismHypoplastic kidneysHypospadias/tulip signMicrognathia/retrognathiaMicropenisMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOverlapping fingersPartial agenesis of corpus callosumPelvic kidneyPostaxial polydactyly of fingersRhizomelia/short femurRhizomelia/short humerusShort long bonesSingle umbilical artery (SUA)Small placentaSyndactyly of 2nd & 3rd toesUndescended testesCoarctation of aortaNarrow forehead

Parents markers:

Agenesis of corpus callosum (ACC)Ambiguous genitaliaArmsHeartHoloprosencephalyHypoplasia/atrophy of cerebellumIntrauterine growth retardation (IUGR/SGA/FGR)MicrocephalyPyelectasis/hydronephrosisRenal agenesisShort limbsSyndactyly of fingersVentriculomegalyAtrioventricular septal defect (AVSD)

Incidence:

1/20000 — 1/40000

Involved genes:
(gene — definition — chromosome)

DHCR7 — 11q13.4

Inheritance mode:

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2012	Eur J Med Genet	Case series of 10 cases	Read on PubMed
2013	Am J Med Genet A		Read on PubMed
2014	Obstet Gyneco		Read on PubMed
2016	Ginekol Pol	Case report	Read on PubMed