National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chanarin-Dorfman syndrome


Other Names:
Triglyceride storage disease with impaired long-chain fatty acid oxidation; NLSDI; Neutral lipid storage disease with ichthyotic; Triglyceride storage disease with impaired long-chain fatty acid oxidation; NLSDI; Neutral lipid storage disease with ichthyotic; Ichthyosiform erythroderma with leukocyte vacuolation; Dorfman Chanarin syndrome; DCS; Chanarin-Dorfman disease; CDS; Disorder of cornification 12 (neutral lipid storage type) See More
Categories:
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.[1]
Last updated: 4/22/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital nonbullous ichthyosiform erythroderma 0007479
Progressive proximal muscle weakness 0009073
30%-79% of people have these symptoms
Abnormal circulating creatine kinase concentration
Abnormal levels of creatine kinase in blood
0040081
Abnormal granulocyte morphology 0001911
Alopecia
Hair loss
0001596
Areflexia
Absent tendon reflexes
0001284
Ataxia 0001251
Cardiomyopathy
Disease of the heart muscle
0001638
Difficulty walking
Difficulty in walking
0002355
Eclabion
Outward turned lips
0012472
Ectropion
Eyelid turned out
0000656
Elevated hepatic transaminase
High liver enzymes
0002910
EMG: myopathic abnormalities 0003458
Global developmental delay 0001263
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hepatomegaly
Enlarged liver
0002240
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Increased CSF protein 0002922
Increased intramyocellular lipid droplets 0012240
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ptosis
Drooping upper eyelid
0000508
Sensorineural hearing impairment 0000407
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Small earlobe
Small earlobes
0000385
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Subcapsular cataract 0000523
5%-29% of people have these symptoms
Central nervous system degeneration 0007009
Micronodular cirrhosis 0001413
Percent of people who have these symptoms is not available through HPO
Abnormality of blood and blood-forming tissues 0001871
Autosomal recessive inheritance 0000007
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Muscle weakness
Muscular weakness
0001324
Myopathy
Muscle tissue disease
0003198
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Chanarin-Dorfman syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Chanarin-Dorfman syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chanarin-Dorfman syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Chanarin-Dorfman syndrome. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome. Accessed 4/22/2011.