Kaplan Plauchu Fitch syndrome
Overview
A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
Symptoms
* Short stature * Cone-shaped skull * Wide set eyes * Droopy eyelids * Downslanted space between eyelids * High nose bridge * Anteverted nostrils * Short upper lip * Cleft palate * Small jaw * Abnormal external ears * Pits near ears * Deafness * Abnormal big toe placement * Finger-like thumbs * Bulbous fingers * Bulbous toes * Sunken chest * Metatarsus adductus * Premature fusion of skull bones * Increased jaw angle * Underdeveloped first hand bone * Underdeveloped end bones in fingers * Underdeveloped end bones in toes * Partially duplicated end bone in thumb * Long lumbar vertebrae * Flared iliac wings * Coxa valga * Protruding eyes * Nail abnormalities * Choanal atresia * Congenital heart anomaly * Defective tear duct system * Knock knees * Large fontanelle * Small head * Myopia * Premature teeth eruption * Sloping forehead * Small foot * Spina bifida occulta * Stillbirth * Infant death
Diagnosis
signs and symptoms of Kaplan-Plauchu-Fitch syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Kaplan-Plauchu-Fitch syndrome symptoms.