Goldenhaar (Facio-Auriculo-Vertebral Syndrome)

• Main features: "malformed ears, small jaw, epibulbar dermoid, vertebral anomalies"
• Often affects the face asymmetrically
• Facial: hypoplasia, macrostomia, cleft like extension of mouth corner, failure of formation of the mandibular ramus and condyle (small jaw)
• Eye: epibulbar/subconjunctival dermoid (usually insisted upon as a diagnostic feature - where this is absent, the term first and second branchial arch syndrome is perhaps preferable).
• Ear: microtia, preauricular tags or pits (ear tags in a line from front of ear to side of mouth), middle ear anomalies
• Oral: decreased parotid secretion, cleft lip/palate
• Vertebral
• Congenital heart disease
• Severe CNS involvement is rare but hydrocephalus, microcephalus, encephalocele and mental retardation have been described

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes