Nager syndrome - Phenotip

Nager syndrome Relevant markers:

Absent radiusBowed ulnaEctrodactyly/cleft of handsHypoplastic thumb/sHypospadias/tulip signLow set ear/sMesomelia of forearmsMicrognathia/retrognathiaMultiple amputation/reductionPolyhydramniosShort radiusTalipesClubfootShort long bones

Parents markers:

Cleft in hard palateCleft lipEarsFixed elbowMicromelia - armsSyndactyly of fingers

Involved genes:
(gene — definition — chromosome)

AFD1 — 9q32

Inheritance mode:

AD, AR, Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Jablonski's Database

References:

2003	Ultrasound Obstet Gynecol		Read on PubMed
2009	Prenat Diagn		Read on PubMed