Hunter Mcdonald syndrome
Overview
A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
Symptoms
* Unusual face * Multiple epiphyseal dysplasia * Hearing loss * Congenital heart anomaly * Short stature * Premature hair loss * Bitemporal grooves * Flared nostrils * Underdeveloped midface * Short upper lip groove * Tall forehead * Droopy eyelids * Thin upper lip * Long neck * Pigeon chest * Hyperextensible joints * Partially dislocated thumbs * Partially dislocated elbows * Metatarsus adductus * Skewed fingers * Delayed bone age * Abnormal bone development * Mitral valve prolapse * Bicuspid aortic valve * Mild mitral regurgitation * Mild aortic regurgitation * Narrowed pulmonary valves * Impaired hearing * Disproportionate short stature * Congenital camptodactyly * Narrowed pulmonary valves * Scoliosis * Epiphyseal dysplasia * Early osteoarthritis * Partially dislocated thumbs * Malformed feet * Tall forehead * Bitemporal narrowing * Droopy eyelids * Short eye slits * Short upper lip groove * Reduced hearing acuity * Transient cranial nerve palsies * Congenital heart defects * Meningioma * Increased risk of brain tumor * Thin upper lip