Variable phenotypic expression, ranging from
mild to severe cases even within the same affected family. The presence of a
scleral dermolipoma on the lateral aspect of the eyeball is a condition sine
qua non for Goldenhar syndrome. Associated malformations include facial
asymmetry (right side in 60% of cases), mandibular hypoplasia,
macrostomia, unilateral hypoplastic palate, unilateral hypoplasia of tongue
muscles, parotid agenesis, epibulbar dermolipomas, upper eyelid coloboma,
blepharophimosis, microphthalmia (even anophthalmia), anomalies of the ear
(external and middle ear are frequently involved, inner ear may be involved,
hearing loss may be conductive or mixed, preauricular cartilaginous tags or
sinuses, external auditory canal atresia), scalp hemangiomas, vertebral
dysplasia, and acroosteolysis of terminal phalanges. Other manifestations
include microcephaly or hydrocephaly with mental retardation in 5 to 15%
of patients, Arnold-Chiari malformation, encephalocele, spina bifida, and
cardiac malformations. Cervical subluxation at the level C1 and C2 has been
described in some patients. Patients often have feeding difficulties, and
they are prone to develop obstructive sleep apnea. Normal lifespan is usual.