How is Farber lipogranulomatosis inherited?

Farber lipogranulomatosis follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How rare is Farber lipogranulomatosis?

Farber lipogranulomatosis is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Farber lipogranulomatosis diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Farber lipogranulomatosis?

Information about treatment is currently limited for this condition.

How does Farber lipogranulomatosis affect daily life?

Living with Farber lipogranulomatosis can be challenging due to symptoms like painful joints and hoarseness. These issues may affect daily activities, such as walking or speaking. Families may need to make adjustments to help manage these symptoms and improve quality of life.

What is the life expectancy for someone with Farber lipogranulomatosis?

Information about the life expectancy for individuals with Farber lipogranulomatosis is currently limited. The severity of symptoms can vary greatly, which may influence overall health and longevity. It's important for families to work closely with healthcare providers to understand individual circumstances.

Are there any specialists recommended for managing Farber lipogranulomatosis?

While specific recommendations for specialists are not detailed, it may be helpful to consult with healthcare providers who have experience in rare diseases. Specialists in genetics, neurology, or rheumatology might be beneficial for managing symptoms and providing support for individuals with Farber lipogranulomatosis.

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Farber lipogranulomatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Farber lipogranulomatosis

MONDO:0009218

Also known as:Farber diseaseN-LAURYLSPHINGOSINE deacylase deficiencyacid ceramidase deficiency

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Overview

A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

GeneticsAutosomal recessive · ASAH1 (chr 8)

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials1 registered

Clinical Presentation

Data assembled from 9 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228000

Orphanet

European rare disease database

Orphanet:333

GARD

Genetic and Rare Diseases Info Center

GARD:6426

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→What is the current development status of recombinant human acid ceramidase, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Farber lipogranulomatosis

Farber lipogranulomatosis is a rare disorder that affects the way sphingolipids, a type of fat, are processed in the body. People with this condition may experience a range of symptoms, with some presenting the classic features as infants, including painful and progressively deformed joints, subcutaneous nodules (small lumps under the skin), and progressively worsening hoarseness due to involvement of the larynx. In addition to these common signs, there are varying phenotypes that might include respiratory and neurological issues. The disease shows a spectrum of severity, and its presentation can differ from one person to another.

Common symptoms include painful, deformed joints, firm lumps under the skin, and worsening hoarseness in the voice. In some cases, people may also experience respiratory difficulties and neurological issues. These symptoms can vary in intensity and may appear in infancy.

Farber lipogranulomatosis is linked to changes in the ASAH1 gene. These changes affect the function of acid ceramidase, an enzyme required for proper sphingolipid metabolism. This enzyme deficiency leads to an accumulation of sphingolipids in the body, which is thought to cause many of the condition's signs and symptoms. Associated genes include ASAH1.

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Features include always present findings: Limitation of knee mobility, Hoarse voice, Joint swelling, and Hyperextensibility of the finger joints and others; and very common findings: Flexion contracture and Abnormal circulating enzyme concentration or activity. 82 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Irritability, Intellectual disability, Nervous system problems (abnormality of the nervous system)
Digestive system	10	Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly), Hepatosplenomegaly
Bones and joints	9	Joint inflammation (arthritis), Joint swelling, Hyperextensibility of the finger joints
Arms and legs	7	Hyperextensibility of the finger joints, Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet
Eyes	6	Cherry red spot of the macula, Abnormal conjunctiva morphology, Macular degeneration
Lungs and breathing	5	Difficulty breathing (respiratory insufficiency), Abnormality of the respiratory system, Respiratory distress
Muscles	4	Limitation of knee mobility, Flexion contracture, Skeletal muscle atrophy
Blood and immune system	4	Enlarged spleen (splenomegaly), Recurrent upper respiratory tract infections, Low platelet count (thrombocytopenia)
Growth and development	2	Failure to thrive, Short stature
Skin	2	Subcutaneous nodule, Periarticular subcutaneous nodules
Lab test results	2	Decreased acid ceramidase activity, Elevated circulating hepatic transaminase concentration
Metabolism	1	Recurrent fever
Pregnancy and birth	1	Hydrops fetalis
Head and neck	1	Abnormal facial shape

GeneReviews

Clinical Guidance

ASAH1-related disorders comprise a spectrum that ranges from Farber disease (FD) to spinal muscular atrophy (SMA) with or without epilepsy. ASAH1-related disorders vary in the age of onset of manifestations, the systems affected, and severity and progression of the disease. While Farber disease has been recognized clinically and diagnosed for decades based on enzyme analysis , the recognition of ASAH1-related SMA and associated findings is a recent discovery based on the use of genomic testing; thus, the understanding of the latter ASAH1-related phenotype is still evolving.

Source: GeneReviews — "ASAH1-Related Disorders"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The following phenotypes of the ASAH1-related disorders should be suspected based on the following age-related clinical and associated findings. Farber disease (FD) should be strongly suspected in a neonate or toddler with the following:

Clinical findings

Subcutaneous nodules located at pressure points and joints
Swollen, painful joints with progressive limitation of range of motion resulting in contractures
Hoarse voice/cry

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

should be suspected in a previously well child with the following:

Clinical findings

Source: GeneReviews — "ASAH1-Related Disorders"

GeneReviews

Differential Diagnosis

Table 2. Inherited Disorders to Consider in the Differential Diagnosis of ASAH1-Related Disorder: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME)

Differential Disorder	Gene(s)	MOI	Clinical Features of Differential Disorder
SMN1	AR	Lower MND w/onset age similar to SMA III	Earlier onset of weakness in SMA I II; no seizures or hearing loss in SMA Progressive myoclonus epilepsy, Lafora type
NHLRC1	AR

Genetic testing for ASAH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Farber lipogranulomatosis has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Farber lipogranulomatosis. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Farber lipogranulomatosis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Farber lipogranulomatosis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
recombinant human acid ceramidase	recombinant human acid ceramidase	Aceragen, Inc.	2013	—	Designated

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with an ASAH1-related disorder, the evaluations summarized in and (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3a. Recommended Evaluations Following Initial Diagnosis of an ASAH1-Related Disorder: Farber Disease

System/Concern	Evaluation	Comment
Constitutional	Assessment for evidence of failure to thrive	—
Respiratory	Airway pulmonary assessment for evidence of pulmonary function due to granulomatous infiltrations	—

GeneReviews

Therapies Under Investigation

Acid ceramidase cDNA introduced into mice in a viral vector has been shown to be expressed over an extended period of time . Further, the expressed acid ceramidase was able to ameliorate the manifestations in a mouse model of Farber disease . Acid ceramidase introduced safely into in non-human, myelo-ablated primates using a lentiviral vector was successfully expressed in hematopoietic cells .

Enzyme replacement therapy

Human recombinant acid ceramidase reduced ceramide levels in the fibroblasts of an individual with Farber disease .
Recombinant acid ceramidase treatment of the mouse model resulted in no further accumulation of ceramide and improved survival .

Source: GeneReviews — "ASAH1-Related Disorders"

Clinical Trials

1 trial found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

No guidelines have been published for the surveillance of ASAH1-related disorder. Table 5a. Recommended Surveillance for Individuals with ASAH1-Related Disorder: Farber Disease

System/Concern	Evaluation	Frequency of Assessment / Comments
Constitutional	Monitor growth for evidence of failure to thrive.	At every visit, consider referral for feeding assessment if poor weight gain. Monitor general health immunization status.
Respiratory	Assessment of airway for evidence of infiltrative pulmonary disease	Routinely
Musculoskeletal	Assessment of joints	Routinely
Developmental	Monitor achievement of developmental milestones.	Child psychologist or developmental pediatrician can assess for cognitive behavioral issues.1 1. Surveillance relevant to the milder forms of Farber disease (i.e., type 1 FD and type 2 FD) Table 5b.
Recommended Surveillance for Individuals with ASAH1-Related Disorder: SMA-PME System/Concern	Evaluation	Frequency/Comments
Constitutional	Monitor growth w/emphasis on feeding nutritional status.	At each visit Monitor general health immunization status.
ENT	Audiologic eval	At least annually
Respiratory	Pulmonary function tests	Routinely
Musculoskeletal	Monitor for development of scoliosis.	Annually
Neurologic	Evaluate disease progression (extent of lower motor neuron disease; status of seizure control).	Routinely
Miscellaneous / Other	Assess for functional capacity equipment needs (mobility, communication).	At each visit

Source: GeneReviews — "ASAH1-Related Disorders"

Phenotype severity distribution: 9 always present features, 2 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for Farber lipogranulomatosis. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (27%), and Gene Therapy / Novel Therapeutics (13%).

Research Type	Count	% of Total
Patient case studies	5	33%
Laboratory research	4	27%
New treatment approaches	2	13%
Other research	1	7%
Testing and diagnosis research	1	7%
Research summaries	1	7%
Disease patterns and progression	1	7%

Recent Publications

Saini L (2026). [PMID: 42175818](https://pubmed.ncbi.nlm.nih.gov/42175818/). *J Child Neurol*. [Case Report / Case Series]
Beragdar MM (2026). [PMID: 42022094](https://pubmed.ncbi.nlm.nih.gov/42022094/). *Saudi J Anaesth*. [Case Report / Case Series]
Cuinat S (2025). [PMID: 40017560](https://pubmed.ncbi.nlm.nih.gov/40017560/). *Neurology. Genetics*. [Diagnostic / Biomarker]
Fitzsimons LA (2025). [PMID: 39705588](https://pubmed.ncbi.nlm.nih.gov/39705588/). *American journal of physiology. Heart and circulatory physiology*. [Case Report / Case Series]
Kleynerman A (2025). [PMID: 39665198](https://pubmed.ncbi.nlm.nih.gov/39665198/). *American journal of physiology. Heart and circulatory physiology*. [Basic Science / Preclinical]
Lucas NCC (2025). [PMID: 40778235](https://pubmed.ncbi.nlm.nih.gov/40778235/). *JIMD reports*. [Gene Therapy / Novel Therapeutics]
Hamzehlou S (2025). [PMID: 40707774](https://pubmed.ncbi.nlm.nih.gov/40707774/). *Journal of human genetics*. [Epidemiology / Natural History]
Liu Y (2025). [PMID: 40350404](https://pubmed.ncbi.nlm.nih.gov/40350404/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]
Simonaro CM (2025). [PMID: 39569490](https://pubmed.ncbi.nlm.nih.gov/39569490/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]
Han J (2025). [PMID: 40766362](https://pubmed.ncbi.nlm.nih.gov/40766362/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

Kisho

Farber lipogranulomatosis

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Farber lipogranulomatosis

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Farber lipogranulomatosis?

What are the symptoms of Farber lipogranulomatosis?

What causes Farber lipogranulomatosis?

How is Farber lipogranulomatosis inherited?

How rare is Farber lipogranulomatosis?

How is Farber lipogranulomatosis diagnosed?

Are there treatments for Farber lipogranulomatosis?

What complications can arise from Farber lipogranulomatosis?

How does Farber lipogranulomatosis affect daily life?

What is the life expectancy for someone with Farber lipogranulomatosis?

Are there any specialists recommended for managing Farber lipogranulomatosis?

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications