Phenotypes associated with the disease multicentric osteolysis, nodulosis, and arthropathy (OMIM:259600):
- Carpal osteolysis (HP:0001495): Osteolysis affecting carpal bones. Evidence: PCS. Frequency: 2/5. (PMID:24637309)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 2/5. (PMID:24637309)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: IEA. (OMIM:259600)
- Short stature (HP:0004322): 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). Evidence: IEA. (OMIM:259600)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: IEA. (OMIM:259600)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 15/16. (OMIM:259600;PMID:24637309;PMID:17059372)
- Coarse facial features (HP:0000280): 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. Evidence: PCS. Frequency: 5/5. (PMID:24637309)
- Split hand (HP:0001171): 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 middle fingers as far as oligo- or monodactyl hands. Evidence: IEA. (OMIM:259600)
- Ankylosis of feet small joints (HP:0008090). Evidence: IEA. (OMIM:259600)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. Frequency: 1/5. (PMID:24637309)
- Peripheral opacification of the cornea (HP:0008011): Reduced transparency of the peripheral region of the cornea. Evidence: IEA. (OMIM:259600)
- Distal tapering of metatarsals (HP:0008133). Evidence: IEA. (OMIM:259600)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:259600)
- Osteolysis involving tarsal bones (HP:0006234): An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: IEA. (OMIM:259600)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 3/3. (PMID:24637309)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 2/5. (PMID:24637309)
- Interphalangeal joint contracture of finger (HP:0001220): Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Finger swelling (HP:0025131): Enlargement of the soft tissues of one or more fingers. Evidence: IEA. (OMIM:259600)
- Broad metatarsal (HP:0001783): Increased side-to-side width of a metatarsal bone. Evidence: PCS. Frequency: 11/11. (OMIM:259600;PMID:17059372)
- C1-C2 subluxation (HP:0003320): A partial dislocation of the atlantoaxial joints. Evidence: PCS. Frequency: 2/5. (PMID:24637309)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Hypoplasia of the maxilla (HP:0000327): 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. Evidence: IEA. (OMIM:259600)
- Autosomal recessive inheritance (HP:0000007): 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). Evidence: IEA. (OMIM:259600)
- Ankle flexion contracture (HP:0006466). Evidence: IEA. (OMIM:259600)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. (OMIM:259600)
- Brachycephaly (HP:0000248): 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. Evidence: IEA. (OMIM:259600)
- Narrow nasal bridge (HP:0000446): Decreased width of the bony bridge of the nose. Evidence: IEA. (OMIM:259600)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: IEA. (OMIM:259600)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Metatarsal osteolysis (HP:0001473): Osteolysis involving metatarsal bones. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Delayed closure of the anterior fontanelle (HP:0001476): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: IEA. (OMIM:259600)
- Protrusio acetabuli (HP:0003179): Intrapelvic bulging of the medial acetabular wall. Evidence: IEA. (OMIM:259600)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: IEA. (OMIM:259600)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: IEA. (OMIM:259600)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: IEA. (OMIM:259600)
- Interphalangeal joint erosions (HP:0006252). Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: IEA. (OMIM:259600)
- Thin metatarsal cortices (HP:0008078). Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Metacarpal osteolysis (HP:0001504). Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Widened metacarpal shaft (HP:0006012). Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 5/5. (PMID:24637309)
- Vertebral compression fracture (HP:0002953). Evidence: IEA. (OMIM:259600)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: PCS. Frequency: 4/5. (PMID:24637309)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:259600)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: IEA. (OMIM:259600)
- Sclerotic cranial sutures (HP:0005441): An increased density in the cranial sutures following obliteration. Evidence: IEA. (OMIM:259600)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: PCS. Frequency: 2/6. (PMID:24637309;PMID:17059372)
- Wide cranial sutures (HP:0010537): An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). Evidence: PCS. Frequency: 2/5. (PMID:24637309)
- Thin metacarpal cortices (HP:0006086). Evidence: PCS. Frequency: 1/1. (PMID:17059372)
- Wrist flexion contracture (HP:0001239): A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. Evidence: IEA. (OMIM:259600)
- Camptodactyly of toe (HP:0001836): 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. Evidence: IEA. (OMIM:259600)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:259600)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:259600)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 1/5. (PMID:24637309)