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Disease Information

Summary

Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (a process known as lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Researchers had previously categorized Farber lipogranulomatosis into subtypes based on characteristic features, but the condition is now thought to be a spectrum of overlapping signs of symptoms. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Signs and symptoms typically first develop in infancy. In addition to the classic signs, Farber lipogranulomatosis often affects multiple body systems. Affected individuals can have developmental delay, behavioral problems, or seizures. In severe cases, people experience progressive decline in brain and spinal cord (central nervous system) function, a buildup of fluid in the brain (hydrocephalus), loss (atrophy) of brain tissue, paralysis of the arms and legs (quadriplegia), loss of speech, or involuntary muscle jerks (myoclonus).   People with Farber lipogranulomatosis often have enlarged liver, spleen, and immune system tissues due to massive lipid deposits. Lipid deposits may also occur in the eyes and lungs, leading to vision problems and breathing difficulty. Affected individuals may develop thinning of the bones (osteoporosis) that worsens over time. Because of the severity of the signs and symptoms of the condition, individuals with Farber lipogranulomatosis generally do not survive past childhood.

About Farber lipogranulomatosis

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:May start to appear at a variety of ages.
  • Cause:This disease has more than one possible cause.
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
  • Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Skin diseases(Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.)Inherited Metabolic diseases(Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.)Lysosomal Storage diseases(Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.)

Resource(s) for Medical Professionals and Scientists on This Disease:

  • ClinGen provides expert-reviewed information on genes and gene variants for use in research and medicine.
  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • Orphanet provides GARD with information for this disease.
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

Resource(s) for Medical Professionals and Scientists on This Disease:

  • ClinGen provides expert-reviewed information on genes and gene variants for use in research and medicine.
  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • Orphanet provides GARD with information for this disease.
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

About Farber lipogranulomatosis

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:May start to appear at a variety of ages.
  • Cause:This disease has more than one possible cause.
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.
  • Categories:Genetic diseases(Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.)Neurological diseases(Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.)Skin diseases(Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.)Inherited Metabolic diseases(Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.)Lysosomal Storage diseases(Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.)

Causes

What Causes This Disease?

Genetic Mutations

Changes in your genes (also called variants) cause Farber lipogranulomatosis.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Genetic Mutations

Changes in your genes (also called variants) cause Farber lipogranulomatosis.

Genes are sections of DNA that contains instructions that help the body grow, develop, and function. A genetic variant is a change in your DNA's order. Parents may pass variants to their children, or they may occur randomly. They may result from viruses, environmental factors, such as UV radiation, or a combination of causes.

Most genetic variants do not cause disease. However, some can affect how a gene works and interfere with the body's normal functions. A pathogenic variant is one that causes disease.

If you think you may have this disease, collect your family health history (CDC). It may help you and your medical team to know about family members who have had the disease or similar symptoms and when those symptoms first appeared.

Read more about genetic disorders (NIH MedlinePlus). 

Known Genetic Mutations

Farber lipogranulomatosis is caused by genetic mutations in the following known gene(s):

ASAH1
Learn more about these genes by searching them on the National Library of Medicine (NLM).

Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease or can provide other useful information to your health care team. Learn more about genetic testing from the National Human Genome Research Institute (NHGRI).

What causes disruption in metabolism?

Farber lipogranulomatosis is caused by a disruption in a person's metabolism. Metabolism is the series of chemical reactions in our body that turns the food we eat into energy and removes toxins. Hormones and specific proteins, called enzymes, help make the right chemical reactions happen in the right order. However, genetic changes can prevent hormones or enzymes from working properly, which can lead to a disruption in metabolism such as energy not being created for the body or toxins not being removed from the body. Learn more about inherited metabolic diseases from the National Human Genome Research Institute (NHGRI).

Impaired Lysosomal Function

This disease is caused by an impairment, or issue, in lysosomal function. Lysosomes are located inside cells and contain digestive enzymes that help break down fats, sugars, and other substances to create energy for the body. Genetic mutations can affect lysosomes such as having a missing or non-functioning digestive enzyme. This can prevent cells from properly breaking down toxins or moving them out of the cell. If toxins build up, the cell may become damaged or die. Depending on their location in the body, these damaged or dead cells may affect different organs and body systems.

Can diseases be passed down from parent to child?

A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information. The Surgeon General offers a tool to help you collect your family health history.

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Farber lipogranulomatosis Begin?

Symptoms of this disease may start to appear at a variety of ages.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
  1. Prenatal Selected
    Before Birth
  2. Newborn Selected
    Birth-4 weeks
  3. Infant Selected
    1-23 months
  4. Child Selected
    2-11 years
  5. Adolescent
    12-18 years
  6. Adult
    19-65 years
  7. Older Adult
    65+ years
Symptoms may start to appear at a variety of ages.
This information comes from Orphanet

Symptoms

You may have one or more symptoms, and they may be mild or severe. Having some or all of these symptoms does not mean you have this disease. Only a health care provider can diagnose you.

Common

Many people have these, but not everyone.

  • Abnormality of the nervous system
  • Abnormality of the respiratory system
  • Abnormally shaped skeletal (Abnormal skeletal morphology)
  • Arthritis
  • Behavioral abnormality (Atypical behavior)
  • Cherry red spot of the macula
  • CNS foam cells
  • Decreased muscle tone in infant (Floppy infant)
  • Faltering weight (Failure to thrive)
  • Flexed joint that cannot be straightened (Flexion contracture)
  • Global developmental delay
  • Hoarse cry
  • Hoarse voice
  • Intellectual disability
  • Joint pain (Arthralgia)
  • Joint swelling
  • Periarticular subcutaneous nodules

Uncommon

Some people have these, but most people do not.

  • Abnormal conjunctiva morphology
  • Abnormal epiglottis morphology
  • Abnormal facial shape
  • Abnormal feet structure (Abnormal foot morphology)
  • Abnormal larynx morphology
  • Abnormality of the elbow
  • Abnormality of the hand
  • Abnormality of the knee
  • Abnormality of the sternum (Abnormal sternum morphology)
  • Abnormality of the wrist
  • Accumulation of fluid in the abdomen (Ascites)
  • Brain degeneration (Brain atrophy)
  • Breathing difficulties (Respiratory distress)
  • Chronic diarrhea
  • Corneal opacity
  • Enlarged liver and spleen (Hepatosplenomegaly)
  • Episodic fever (Recurrent fever)
  • Feeding difficulties
  • Hepatic fibrosis
  • Hydrops fetalis
  • Inability to produce voice sounds (Dysphonia)
  • Inability to speak (Mutism)
  • Infantile spasms
  • Intrahepatic cholestasis with episodic jaundice
  • Involuntary muscle stiffness, contraction, or spasm (Spasticity)
  • Involuntary, rapid, rhythmic eye movements (Nystagmus)
  • Laryngeal stridor
  • Liver failure (Hepatic failure)
  • Loss of developmental milestones (Developmental regression)
  • Loss of voice
  • Low number of red blood cells or hemoglobin (Anemia)
  • Low platelet count (Thrombocytopenia)
  • Macular degeneration
  • Muscle degeneration (Skeletal muscle atrophy)
  • Myoclonus
  • Opacification of the corneal stroma
  • Osteoporosis
  • Partial paralysis of legs (Paraparesis)
  • Recurrent colds (Recurrent upper respiratory tract infections)
  • Respiratory impairment (Respiratory insufficiency)
  • Seizure
  • Short finger
  • Short stature
  • Short toe
  • Swollen lymph nodes (Lymphadenopathy)
  • Visual fixation instability
  • Weak cry
This information comes from the Human Phenotype Ontology (HPO)

Navigating Health Care Decisions

On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.

If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases.

Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands your needs can make a significant difference in your quality of life.

Your Health Care Team

Why is building the right health care team important?

Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

Seeing multiple specialists is important for people with rare diseases because these conditions often affect many parts of the body and require care from doctors with different expertise. Most primary care providers may not be familiar with rare diseases, so involving specialists can lead to a more accurate diagnosis and better care. A coordinated team approach ensures that all symptoms are addressed and that care is well-managed. It can also connect patients with the latest research or treatment options.

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.

These specialists may help in the diagnosis, management, and treatment of Farber lipogranulomatosis:

Neurologists are doctors with specialized training in diagnosing and treating conditions that affect the brain, spinal cord, and nerves. These parts of the nervous system help control how the body moves, feels, and thinks. Neurologists often care for people with seizures, memory problems, muscle weakness, movement disorders, and inherited conditions such as muscular dystrophies. To better understand a person's symptoms, neurologists may use imaging tests that show the brain or spine, or tests that measure the brain’s electrical activity.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Board of Psychiatry and Neurology to find a specialist. 
Ophthalmologists are doctors with specialized training in managing serious eye problems, including those that require surgery. They may have additional experience with rare or inherited eye diseases, birth defects, or eye conditions linked to the nervous or immune system. Some ophthalmologists focus on specific areas, such as diseases of the retina or cancers of the eye. They may use imaging, vision tests, and lab work to diagnose and guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Ophthalmology to find a specialist.
Geneticists are doctors trained to diagnose and manage conditions caused by genetic changes, birth defects, or metabolic disorders. Metabolic disorders affect how the body makes or uses energy. Geneticists often work alongside genetic counselors to review family history, discuss genetic risks, explain testing options, and interpret genetic test results. They help people understand how inherited conditions may affect them and their families.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Medical Genetics and Genomics to find a specialist.
Retina specialists are eye doctors with advanced training in diagnosing and treating diseases of the retina. They focus on identifying and managing diseases such as inherited retinal diseases, macular degeneration, diabetic eye disease, and retinal inflammation. These specialists may have experience treating rare or complex retinal diseases and can help if you have unexplained vision loss, distorted vision, or are at risk for a genetic retinal disease. Retina specialists may prove particularly important when diseases are progressive, rare, or difficult to manage with standard care.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the American Society of Retina Specialists to search for a retina specialist in your area.
Epileptologists are neurologists with advanced training in diagnosing and treating epilepsy and seizure disorders. They specialize in evaluating complex or drug-resistant forms of epilepsy, including rare types that may involve multiple seizure types or be linked to genetic or metabolic disorders. Epileptologists may use tools such as electroencephalogram (EEG), brain imaging, and genetic testing to help guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for an epileptologist in your area. Search using the keyword “epilepsy."
Dermatologists are doctors trained to diagnose and treat conditions that affect the skin, hair, and nails. Because the skin can show signs of many health issues, dermatologists often gain important insights by examining it. They commonly treat skin infections, rashes, eczema, hair loss, and skin cancers. To diagnose some conditions, dermatologists may take small skin samples (biopsies) for testing. Treatments can include medications, light therapies such as ultraviolet radiation, and surgery to remove damaged tissue or skin cancers.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Dermatology Association to find a specialist.

Multidisciplinary Care Centers

Is It Time to Get a Second Opinion or Specialized Evaluation?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

Find hospitals that may partner with medical schools and programs in your area. 

Children’s hospitals and large teaching hospitals may also offer dedicated specialists and programs for pediatric patients with undiagnosed or rare diseases. These programs bring pediatric experts together in one place and may provide more coordinated care for your child.

Search for children's or university hospitals in your area.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. 

You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Farber lipogranulomatosis:

Find Your Community

How can patient organizations help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources


Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.


View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD. 

Patient Organizations

3 Organizations

National Tay-Sachs and Allied Diseases Association

People With

Farber lipogranulomatosis

Country

United States

Epilepsy Foundation

People With

Epilepsy

Helpful Links
Country

United States

Children's Skin Disease Foundation

People With

Skin diseases

Country

United States

OrganizationPeople WithHelpful LinksCountry
National Tay-Sachs and Allied Diseases AssociationFarber lipogranulomatosisUnited States
Epilepsy FoundationEpilepsyList of Experts
Research Registry		United States
Children's Skin Disease FoundationSkin diseasesUnited States

Participate in Research

Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Why may you want to consider joining the All of Us Research Program?

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease.
GARDGenetic and Rare Diseases
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
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Sources & References

Last Updated: September 2026