Lathosterolosis
Overview
very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease .
Symptoms
* Liver disease * Mental retardation * Congenital malformations * Small head * Unusual facial appearance * Extra little toe * Webbed toes * Severe psychomotor delay * Reduced muscle tone * Corneal clouding * Enlarged gums * Enlarged liver * Enlarged spleen * Genital anomalies * Neurological symptoms * Myoclonus * White matter demyelination * Brain (cerebral) calcification * Receding forehead * Anteverted nostrils * Small jaw * Prominent upper lip * High arched palate * Cleft palate * Craniofacial defects
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Lathosterolosis. This medical information about signs and symptoms for Lathosterolosis has been gathered from various sources, may not be fully accurate, and may not be the full list of Lathosterolosis signs or Lathosterolosis symptoms. Furthermore, signs and symptoms of Lathosterolosis 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 Lathosterolosis symptoms.