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Goldenhar syndrome

Tuesday 8 March 2005

Definition: Hemifacial microsomia is a common birth defect involving first and second branchial arch derivatives. The phenotype is highly variable. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.


- epibulbar dermoid
- microtia
- hemifacial microsomia
- preauricular appendages and preauricular pits were double
- cleft lip
- macrostomia
- dental misalignment
- large tongue
- high arched palate
- thumb defect (18292629)

  • hypoplastic thumb (thumb hypoplasia) (18292629)

- cardiac malformations (5-58%) (18553555)

  • atrial and ventricular septal defects
    • -*ventricular septal defect (VSDs)

- tumors

Etiology (Exemples)

- del(1)(p22.2p31.1)
- mosaic trisomy 22 (8585556)
- distal 22q11.2 deletion (19938088)


- Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP. Am J Med Genet A. 2009 Dec;149A(12):2855-9. PMID: 19938088

- Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D’Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet A. 2008 Jul 15. PMID: 18629884

- Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, Dallapiccola B, Marino B. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A. 2008 Jun 13. PMID: 18553555

- Das A, Ray B, Das D, Das S. A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb.Indian J Ophthalmol. 2008 Mar-Apr;56(2):150-2. PMID: 18292629