2. Goldenhar syndrome is a rare congenital defect characterized by
Incomplete development of ear
Incomplete development of nose Incomplete development of
mandible
Cleft lip
Periauricular skin tags
3. Limbal dermoid
Incomplete
development of palate
1. It affects one in every 3,000-5,000 births with a male-to-female ratio of 3:2
2. About half of people with Goldenhar syndrome will have a form of congenital
scoliosis.
congenital
scoliosis
5. Causes
❖The cause of Goldenhar syndrome is largely
unknown.
❖There may be a genetic component, which account for certain
familial patterns.
❖It has been suggested that there is a branchial arch development
issue late in the first trimester.
❖Children of Gulf War veterans.
6. Diagnosis
✓Diagnosis is based on clinical features.
✓General features include unilateral facial asymmetry.
✓Skeletal abnormalities include mandibular deformities,
scoliosis. Other organ abnormalities include cardiac defects and
renal abnormalities.
✓Karyotype, MRI, CT, Blood investigations to rule out other
conditions
7. Treatment
❑Surgical intervention for jaw distraction/bone grafts, repairing
cleft palate/lip, repairing heart malformations or spinal surgery.
❑Some patients needs hearing aids or glasses.
❑Stem cell grafting for eye dermoid.