Mandibulofacial dysostosis- Treacher Collins type- autosomal recessive
A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.
* Downslanting eye slits * Coloboma of lower eyelids * Flattened cheek bones * Abnormal ears * Receding chin
* Amastia, bilateral, with ureteral triplication and dysmorphism * Auriculoosteodysplasia * Burn-McKeown syndrome * Cardiocranial syndrome * Chromosome 1, 1p36 deletion syndrome
* Pain Specialists: o Pain Medicine