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multicentric osteolysis, nodulosis, and arthropathy - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Coarse facial features, Osteolysis involving tarsal bones, Hirsutism, and Interphalangeal joint contracture of finger and others; and very common findings: Gingival overgrowth. 54 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	12	Carpal osteolysis, Ankylosis of feet small joints, Osteolysis involving tarsal bones
Arms and legs	5	Split hand, Ankylosis of feet small joints, Interphalangeal joint contracture of finger
Muscles	4	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture
Eyes	2	Cloudy or opaque cornea (corneal opacity), Peripheral opacification of the cornea
Head and neck	2	Coarse facial features, Hypoplasia of the maxilla
Skin	2	Thickened skin, Subcutaneous nodule
Growth and development	1	Short stature
Lab test results	1	Antinuclear antibody positivity
Brain and nerves	1	Difficulty walking (gait disturbance)
Heart and blood vessels	1	Mitral valve prolapse

GeneReviews

Clinical Guidance

Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (contractures, pain, joint swelling/stiffness). Other manifestations include pigmented lesions on the skin, coarse facies, corneal opacities, and cardiac defects. Most affected children are apparently normal at birth. Onset is usually between ages six months and six years ; the range is from birth to 11 years . To date, 51 individuals have been identified with biallelic pathogenic variants in MMP2 [, , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Multicentric Osteolysis Nodulosis and Arthropathy: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Joint disease	~100%	—

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

Formal diagnostic criteria have not been established for multicentric osteolysis nodulosis and arthropathy (MONA).

Suggestive Findings

MONA should be suspected in individuals with the following clinical findings, radiographic findings, and family history.

Clinical findings

Joint disease manifest predominantly as pain, swelling, and contractures of the small joints of the hands and feet in early childhood (See and .)
Subcutaneous nodules, usually on the palms and soles (See .)
Coarse facial features
Gingival hypertrophy

Radiographic findings

Source: GeneReviews — "Multicentric Osteolysis Nodulosis and Arthropathy"

GeneReviews

Differential Diagnosis

Table 3. Disorders to Consider in the Differential Diagnosis of Multicentric Osteolysis Nodulosis and Arthropathy (MONA)

Gene	DiffDx Disorder	MOI	Features Overlapping w/MONA	Features Distinguishing from MONA
ANTXR2	Hyaline fibromatosis syndrome (HFS)	AR	Skin thickening; coarse facies; osteopenia osteolysis; similar early manifestations in some affected persons	In HFS: hyaline deposits in papillary dermis other tissues, pearly papules of face neck, perianal masses, differing pattern of bone involvement

Genetic testing for MMP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for multicentric osteolysis, nodulosis, and arthropathy 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 multicentric osteolysis, nodulosis, and arthropathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with multicentric osteolysis nodulosis and arthropathy (MONA), 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 Multicentric Osteolysis Nodulosis and Arthropathy

System/Concern	Evaluation	Comment
Cardiac	Cardiac eval incl echocardiogram	—
Ophthalmologic	Eye exam	Genetic
counseling	By genetics professionals1	To inform affected persons families re nature, MOI, implications of MONA to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Multicentric Osteolysis Nodulosis and Arthropathy Manifestation/Concern	Treatment	Comments Joint manifestations
Congenital heart defects	Medical or surgical interventions as recommended by cardiologist	—

Source: GeneReviews — "Multicentric Osteolysis Nodulosis and Arthropathy"

GeneReviews

Clinical Guidance

Avoid physical trauma to reduce the risk of fractures.

Source: GeneReviews — "Multicentric Osteolysis Nodulosis and Arthropathy"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Multicentric Osteolysis Nodulosis and Arthropathy"

Clinical Trials

View trials for multicentric osteolysis, nodulosis, and arthropathy

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Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Multicentric Osteolysis Nodulosis and Arthropathy

System/Concern	Evaluation	Frequency
Joint manifestations	Assessment of joints by rheumatologist or orthopedic surgeon	Annually
Congenital heart defects	Eval by cardiologist	As recommended by cardiologist
Scoliosis/Kyphosis	Back exam	Annually

Source: GeneReviews — "Multicentric Osteolysis Nodulosis and Arthropathy"

Phenotype severity distribution: 17 always present features, 1 very common feature, 6 common features.

Kisho

multicentric osteolysis, nodulosis, and arthropathy

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

multicentric osteolysis, nodulosis, and arthropathy

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team