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Multicentric osteolysis, nodulosis and arthropathy(MONA)

MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Synonyms: AL-AQEEL SEWAIRI SYNDROME; Al-Qeel Sewairi syndrome; MONA; NAO SYNDROME; NOA syndrome; Nodulosis arthropathy osteolysis syndrome; Osteolysis, hereditary multicentric; Torg syndrome; Torg Winchester syndrome; Winchester-Grossman syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MMP2 (16q12.2)
OMIM®: 259600
Orphanet: ORPHA3460

Disease characteristics

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 (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years). [from GeneReviews]
Authors:
Gandham SriLakshmi Bhavani  |  Hitesh Shah  |  Anju Shukla, et. al.   view full author information

Additional descriptions

From OMIM
Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (277950), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.  http://www.omim.org/entry/259600
From GHR
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."  https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropathy

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Abnormality of the ear
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
A finding referring to walking difficulties.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Finger swelling
MedGen UID:
65989
Concept ID:
C0239598
Finding
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Carpal osteolysis
MedGen UID:
318954
Concept ID:
C1833734
Pathologic Function
Osteolysis affecting carpal bones.
Osteolysis involving tarsal bones
MedGen UID:
322262
Concept ID:
C1833735
Pathologic Function
An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Broad metatarsal
MedGen UID:
330797
Concept ID:
C1842231
Finding
Increased side-to-side width of a metatarsal bone.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Interphalangeal joint erosions
MedGen UID:
340477
Concept ID:
C1850158
Finding
Widened metacarpal shaft
MedGen UID:
340478
Concept ID:
C1850159
Finding
Thin metacarpal cortices
MedGen UID:
376718
Concept ID:
C1850160
Finding
Thin metatarsal cortices
MedGen UID:
342430
Concept ID:
C1850162
Finding
Metacarpal osteolysis
MedGen UID:
343165
Concept ID:
C1854610
Finding
Metatarsal osteolysis
MedGen UID:
344327
Concept ID:
C1854614
Finding
Osteolysis involving metatarsal bones.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Interphalangeal joint contracture of finger
MedGen UID:
867413
Concept ID:
C4021784
Anatomical Abnormality
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Distal tapering of metatarsals
MedGen UID:
870287
Concept ID:
C4024729
Anatomical Abnormality
Ankylosis of feet small joints
MedGen UID:
870290
Concept ID:
C4024732
Disease or Syndrome
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Interphalangeal joint contracture of finger
MedGen UID:
867413
Concept ID:
C4021784
Anatomical Abnormality
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
Indicates that antibodies directed against nuclear antigens have been detected.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Decreased calcification or density of bone tissue.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Finger swelling
MedGen UID:
65989
Concept ID:
C0239598
Finding
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Vertebral compression fractures
MedGen UID:
75497
Concept ID:
C0262431
Finding
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Carpal osteolysis
MedGen UID:
318954
Concept ID:
C1833734
Pathologic Function
Osteolysis affecting carpal bones.
Osteolysis involving tarsal bones
MedGen UID:
322262
Concept ID:
C1833735
Pathologic Function
An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
C1-C2 subluxation
MedGen UID:
376359
Concept ID:
C1848446
Finding
A partial dislocation of the atlantoaxial joints.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Interphalangeal joint erosions
MedGen UID:
340477
Concept ID:
C1850158
Finding
Widened metacarpal shaft
MedGen UID:
340478
Concept ID:
C1850159
Finding
Thin metacarpal cortices
MedGen UID:
376718
Concept ID:
C1850160
Finding
Metacarpal osteolysis
MedGen UID:
343165
Concept ID:
C1854610
Finding
Metatarsal osteolysis
MedGen UID:
344327
Concept ID:
C1854614
Finding
Osteolysis involving metatarsal bones.
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Delayed closure of the anterior fontanelle
MedGen UID:
825928
Concept ID:
C3840083
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Interphalangeal joint contracture of finger
MedGen UID:
867413
Concept ID:
C4021784
Anatomical Abnormality
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Abnormality of the thorax
MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Ankylosis of feet small joints
MedGen UID:
870290
Concept ID:
C4024732
Disease or Syndrome
Sclerotic cranial sutures
MedGen UID:
870740
Concept ID:
C4025195
Finding
An increased density in the cranial sutures following obliteration.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Delayed closure of the anterior fontanelle
MedGen UID:
825928
Concept ID:
C3840083
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Sclerotic cranial sutures
MedGen UID:
870740
Concept ID:
C4025195
Finding
An increased density in the cranial sutures following obliteration.
Narrow nasal bridge
MedGen UID:
1641596
Concept ID:
C4551564
Finding
Decreased width of the bony bridge of the nose.
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Interphalangeal joint contracture of finger
MedGen UID:
867413
Concept ID:
C4021784
Anatomical Abnormality
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.
Subcutaneous nodule
MedGen UID:
101803
Concept ID:
C0151811
Pathologic Function
A small palpable mass in the subcutaneous tissues.
Thickened skin
MedGen UID:
66024
Concept ID:
C0241165
Finding
Hypermelanotic macule
MedGen UID:
375013
Concept ID:
C1842774
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Peripheral opacification of the cornea
MedGen UID:
509788
Concept ID:
C0155100
Finding
Reduced transparency of the peripheral region of the cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMulticentric osteolysis, nodulosis and arthropathy
  • Multicentric osteolysis, nodulosis and arthropathy
    • Multicentric osteolysis, nodulosis and arthropathy
      • Multicentric osteolysis, nodulosis and arthropathy
        • Multicentric osteolysis, nodulosis and arthropathy
Follow this link to review classifications for Multicentric osteolysis, nodulosis and arthropathy in Orphanet.

Recent clinical studies

Prognosis

Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L
J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348

Clinical prediction guides

Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L
J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674
Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348

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