Question: What is (are) Chanarin-Dorfman syndrome ?
Answer: Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
Source: GARD

Question: What are the symptoms of Chanarin-Dorfman syndrome ?
Answer: What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Alopecia - Ataxia - Autosomal recessive inheritance - Congenital nonbullous ichthyosiform erythroderma - Ectropion - Hepatic steatosis - Hepatomegaly - Intellectual disability - Microtia - Muscle weakness - Myopathy - Nystagmus - Sensorineural hearing impairment - Strabismus - Subcapsular cataract - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD