Wolf-Hirschhorn (4p-) syndrome

Wolf-Hirschhorn (4p-) syndrome Relevant markers:

Absent gallbladderClubfootClubhandCryptoorchidismGreek helmet appearanceHigh foreheadHypertelorismHypospadias/tulip signMicrocephalyMicrognathia/retrognathiaMicropenisNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligohydramniosProminent GlabellaSevere IUGR/SGAShort philtrumSingle umbilical artery (SUA)Symmetric IUGR/SGAUterine Malformation1st degree AV-block

Parents markers:

BrainCleft lipCleft palateCorpus callosumDigitsEarsForeheadHeartKidneysMouth and lipsPalateToes

Incidence:

1/50000 — -

Male — Female Ratio:

1 — 2

Involved genes:
(gene — definition — chromosome)

LETM1 — 4p16.3, WHSC1 — 4p16.3

Inheritance mode:

Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2008	Am J Med Genet C Semin Med Genet.	litterature review	Read on PubMed
2011	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2012	Pediatr Cardiol	Case report	Read on PubMed
2013	Birth Defects Res A Clin Mol Teratol	Literature review	Read on PubMed
2013	J Matern Fetal Neonatal Med	Case report	Read on PubMed
2016	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2018	Eur J Obstet Gynecol Reprod Biol	Case series	Read on PubMed