Refsum disease- infantile form


A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.


* Epicanthal folds * Underdeveloped mid-face * Low-set ears * Slightly reduced muscle tone * Developmental degeneration following period of normal development * Impaired ability to control voluntary movements * Sensorineural hearing loss * Retinitis pigmentosa * Enlarged liver * Anosmia * Diarrhea


Womens Health Specialists:-, * Obstetrics & Gynecology * Reproductive Endocrinology & Infertility * Gynecological Oncology * Maternal & Fetal Medicine * Neonatal-Perinatal Medicine Child Health Specialists (Pediatrics):