Goldenhar:

Goldenhar Syndrome is an ‘umbrella’ term for a wide range of bone abnormalities affecting the face and sometimes the vertebrae. It has been proven not to be genetic. Other names for this spectrum of problems are: Hemi-facial Microsomia; First and Second Branchial Arch syndrome; Facio-Auricular Vertebral Spectrum Oculo-Auricular Vertebral Dysplasia.

Some common problems:

Small, missing or misshapen ears, skin tags (usual in front of the ear), mouth opening larger on one side (Macpostoma); Underdevelopment of the muscles of the face (Hypoplasia); Spinal vertebrae fused, missing or not formed on one side (Hemivertebrae); Ribs misshapen on one side; Eyes – dermoid cyst over the eye, Anophthalmia: missing eye; Middle ear abnormalities – nearly all of the children have hearing loss on the abnormal side; Cleft lip and or palate; Breathing difficulties – some of the children with Goldenhar have required a tracheostomy soon after birth; Feeding problems – some of the children have had difficulty swallowing and required tube feeding; Internal problems such as kidney or heart (heart are less common but, occasionally, are found with this syndrome.

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www.goldenhar.org.uk

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