Roberts syndrome - Phenotip

Roberts syndrome Relevant markers:

Absent femurAbsent fibulaAbsent humerusAtrial septal defect (ASD)Bilateral hypoplasia/atrophy of cerebellumCataractEctrodactyly/cleft of handsEnlarged phallusFacial hemangiomaHypertelorismHypoplastic femur/sHypoplastic humerus/humeriHypoplastic tibia/sIpsilateral abdominal aorta and IVCLeft stomach Right heartMicrognathia/retrognathiaMulticystic dysplastic kidney/sMultiple amputation/reductionNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligodactyly of handsOligodactyly of toesOligohydramniosPhocomelia of lower limb/sPhocomelia of upper limb/sPolycystic (enlarged echogenic) kidney/sPolyhydramniosRight stomach Left heartSevere IUGR/SGAShort fibulaShort long bonesShort tibiaUnbalanced atrioventricular septal defect (AVSD)Undescended testesCephalocele

Parents markers:

Bowel obstructionCleft in hard palateCleft lipContractures/arthrogryposisCraniosynostosisEarsHeartIntrauterine growth retardation (IUGR/SGA/FGR)KidneysMicrocephalyMicrophthalmiaNoseSyndactyly of fingersVentriculomegaly

Incidence:

1/1000000 — -

Involved genes:
(gene — definition — chromosome)

ESCO2 — 8p21.1

Inheritance mode:

Other antenatal testing:

Premature centromere separation by cytogenetics

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

1992	Prenat Diagn	Case report	Read on PubMed
1996	Prenat Diagn	Case report	Read on PubMed
2011	Arch Gynecol Obstet	Case report	Read on PubMed
2016	Congenit Anom (Kyoto)	Case series (3 patients)	Read on PubMed