Goldenhar syndrome

Goldenhar syndrome Relevant markers:

Accessory auricle/tagAgenesis of lung/sAtrial septal defect (ASD)Coarctation of aortaCrossed-fused renal ectopiaDouble outlet right ventricle (DORV)Duplex collecting systemHemifacial microsomiaHypoplastic thumb/sInfracardiac total anomalous pulmonary venous drainage (TAPVD)Mandibular asymmetryMicrognathia/retrognathiaMulticystic dysplastic kidney/sPolyhydramniosPulmonary valve atresiaRight sided archTalipesTracheo-esophageal fistula (TEF)Tetralogy of Fallot (TOF)Unilateral dysplastic earUnilateral hypoplasia/atrophy of cerebellumAbsent nasal bone/sAbsent radius

Parents markers:

Cleft in hard palateCleft lipCleft palateEctopic kidneyHeartHemivertebraHeterotaxyPericallosal lipomaInterrupted aortaMicrophthalmiaPyelectasis/hydronephrosisRenal agenesisSkinVentriculomegalyVentricular septal defect (VSD)

Incidence:

1/5000 — 1/50000

Involved genes:
(gene — definition — chromosome)

14q32

Inheritance mode:

AD, AR, Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2013	Genet Couns	Case report	Read on PubMed
2016	BMJ Case Rep	Case report	Read on PubMed