Holt-Oram syndrome

Holt-Oram syndrome Relevant markers:

Absent thumbAtrial septal defect (ASD)Bifid thumbClinodactyly 5th fingerClubhandDilated right atriumHypoplastic left ventricleNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPhocomelia of upper limb/sPositive family historySyndactyly of thumb with indexThree phalangeal thumbUlnar ray anomalyHypoplastic radius/radiiAbsent radiusHypoplastic thumb/s

Parents markers:

ArrythmiaAtrioventricular septal defect (AVSD)HeartSyndactyly of fingersVentricular septal defect (VSD)

Incidence:

1/100000 — -

Involved genes:
(gene — definition — chromosome)

TBX5 — 12q24.21

Inheritance mode:

Other online databases:

OrphaNet

References:

2014

Ultrasound Obstet Gynecol

2 case reports

Read on PubMed