How is Majeed syndrome inherited?

Majeed syndrome 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 Majeed syndrome?

Majeed syndrome 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 Majeed syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Majeed syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Majeed syndrome?

Majeed syndrome can lead to complications like severe bone pain and swelling due to chronic recurrent multifocal osteomyelitis. This bone inflammation can affect mobility and daily activities. Additionally, the anemia associated with Majeed syndrome may cause fatigue and weakness, impacting overall health.

How does Majeed syndrome affect daily life?

Living with Majeed syndrome can be challenging due to recurring bone pain and episodes of skin inflammation. Patients may need to manage their symptoms with regular medical care and may require assistance during painful flare-ups. It's important for families to create a supportive environment to help cope with these daily challenges.

What is the life expectancy for someone with Majeed syndrome?

Currently, there is limited information about the life expectancy of individuals with Majeed syndrome. The condition's impact can vary widely among patients, depending on the severity of symptoms and complications. Ongoing research may provide more insights into long-term outcomes in the future.

Are there any specialists that should be involved in managing Majeed syndrome?

Managing Majeed syndrome often requires a team of specialists. A pediatrician or family doctor can help with general health, while a hematologist can address anemia issues. An orthopedic specialist may be needed for bone-related symptoms, and a dermatologist can assist with skin problems.

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Majeed syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated erythrocyte sedimentation rate, Joint swelling, Bone pain, and Delayed skeletal maturation and others; and very common findings: Hepatosplenomegaly. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Joint swelling, Bone pain, Delayed skeletal maturation
Blood and immune system	3	Decreased mean corpuscular volume, Anemia of inadequate production, Small red blood cells (microcytic anemia)
Skin	2	Inflammatory abnormality of the skin, Skin rash
Growth and development	2	Failure to thrive, Growth delay
Muscles	1	Flexion contracture
Prenatal/birth	1	Anemia of inadequate production
Metabolism	1	Recurrent fever
Hormones	1	Delayed puberty
Digestive system	1	Hepatosplenomegaly

Age of onset: childhood.

GeneReviews

Clinical Guidance

Individuals with LPIN2-related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Because more than half of affected individuals have recurrent fever as one of the first manifestations, LPIN2-related Majeed syndrome should be considered in the spectrum of periodic fever syndromes in children . As more families are being described, individuals with milder features are now being recognized. To date, 32 individuals from 19 families have been identified with a pathogenic variant in LPIN2 [; ; Authors, personal observation]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. LPIN2-Related Majeed Syndrome: Frequency of Select Features

Feature	# of Persons w/Feature	Comment
Chronic multifocal osteomyelitis	32/32 (100%)	Recurrent episodes

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

No consensus clinical diagnostic criteria for LPIN2-related Majeed syndrome have been published.

Suggestive Findings

LPIN2-related Majeed syndrome should be suspected in individuals with the following clinical, supportive laboratory, imaging, and family history findings.

Clinical findings

Recurrent bone pain near the joints, often of the long bones of the lower extremities
Joint swelling and subsequent joint contracture
Chronic recurrent multifocal osteomyelitis that is sterile
Neutrophilic dermatosis, which may present as painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates

Note: This finding can be transient.

Failure to thrive
Recurrent fever
Hepatosplenomegaly
Gastrointestinal issues, including recurrent abdominal pain and/or recurrent diarrhea

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

GeneReviews

Differential Diagnosis

Table 3.

Genes of Interest in the Differential Diagnosis of LPIN2-Related Majeed Syndrome

Gene | Disorder | MOI | Features of This Disorder

Overlapping w/LPIN2-related Majeed syndrome | Distinguishing from LPIN2-related Majeed syndrome

IL1RN

| Interleukin-1 receptor antagonist deficiency (OMIM 612852) | AR | Multifocal sterile osteomyelitis, ESR, CRP | Predominant skin pustulosis from early infancy

NLRP3

| Chronic infantile neurologic cutaneous articular syndrome (OMIM 607115) | AD | Recurrent fever, bone pain, skin rash | CNS involvement, chronic meningitis

PSTPIP1

| Pyogenic sterile arthritis, pyoderma gangrenosum, acne (OMIM 604416) | AD | Sterile arthritis, ESR, CRP | Acne, pyoderma gangrenosum

TNFRSF1A

| TNF receptor-associated periodic fever syndrome | AD | Recurrent fever, ESR, CRP | Systemic ...

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

Genetic testing for LPIN2 is available. Testing is considered confirmatory for diagnosis.

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 Majeed syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for LPIN2-related Majeed syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LPIN2-related Majeed syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with LPIN2-Related Majeed Syndrome

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	To assess for failure to thrive /or poor growth
Musculoskeletal	Radiographs or MRI of any painful /or red, swollen limbs or joints	To assess for evidence of osteomyelitis Assessment for delayed motor milestones
Gastrointestinal	Physical exam to evaluate for hepatosplenomegaly	If present, abdominal ultrasound to assess degree of organomegaly
Hematologic	Measurement of CBC w/differential	To screen for microcytic anemia neutropenia
Integument	Full skin exam	To assess for signs of dermatosis

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

Clinical Trials

View trials for Majeed syndrome

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

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended. Table 6. Recommended Surveillance for Individuals with LPIN2-Related Majeed Syndrome

System/Concern	Evaluation	Frequency
Growth	Measurement of growth parameters	At each visit Musculoskeletal
Immunologic	ESR CRP levels to monitor level of inflammation	At each visit
Hematologic	CBC w/differential to assess for anemia neutropenia	Every 6 mos
Integument	Full skin exam to assess for signs of dermatosis	At each visit CBC = complete blood count; CRP = C-reactive protein; ESR = erythrocyte sedimentation rate

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

Phenotype severity distribution: 8 always present features, 1 very common feature, 3 common features.

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

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609628

Orphanet

European rare disease database

Orphanet:77297

GARD

Genetic and Rare Diseases Info Center

GARD:10088

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 Majeed syndrome

Majeed syndrome is a rare genetic multisystemic disorder characterized by three main features: chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and a variable transient inflammatory dermatosis. This means that people with this condition may experience recurring inflammation in multiple bones, anemia that is present from birth, and episodes of skin inflammation. The disorder is inherited and linked to changes in the LPIN2 gene. The combination of bone inflammation, anemia, and skin issues defines the condition and distinguishes it from other disorders. Ongoing research aims to better understand its underlying mechanisms.

People with Majeed syndrome typically have symptoms that include recurring bone pain and swelling due to chronic recurrent multifocal osteomyelitis. They also have congenital dyserythropoietic anemia, which affects red blood cell production, and may experience episodes of inflammatory skin changes or rashes.

Majeed syndrome is caused by genetic changes in the LPIN2 gene. These changes can affect how the body controls inflammation and bone health, leading to the symptoms associated with this condition. Associated genes include LPIN2.

Kisho

Majeed syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

IL1RN

NLRP3

PSTPIP1

TNFRSF1A

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Majeed syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

IL1RN

NLRP3

PSTPIP1

TNFRSF1A

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

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 Majeed syndrome?

What are the symptoms of Majeed syndrome?

What causes Majeed syndrome?

How is Majeed syndrome inherited?

How rare is Majeed syndrome?

How is Majeed syndrome diagnosed?

Are there treatments for Majeed syndrome?

What complications can arise from Majeed syndrome?

How does Majeed syndrome affect daily life?

What is the life expectancy for someone with Majeed syndrome?

Are there any specialists that should be involved in managing Majeed syndrome?