Arthritis, and Osteosarcoma
Diseases related with Arthritis and Osteosarcoma
In the following list you will find some of the most common rare diseases related to Arthritis and Osteosarcoma that can help you solving undiagnosed cases.
Top matches:
Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).
EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis
Related symptoms:
- Short stature
- Neoplasm
- Depressivity
- Abnormality of the foot
- Genu valgum
SOURCES:
OMIM
MENDELIAN
More info about EXOSTOSES, MULTIPLE, TYPE I
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd
Related symptoms:
- Intellectual disability
- Short stature
- Pain
- Congestive heart failure
- Pneumonia
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Related symptoms:
- Intellectual disability
- Short stature
- Scoliosis
- Delayed skeletal maturation
- Kyphoscoliosis
SOURCES:
ORPHANET
MENDELIAN
More info about DYSSPONDYLOENCHONDROMATOSIS
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Other less relevant matches:
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs
Related symptoms:
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Myopia
SOURCES:
OMIM
MENDELIAN
More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia
Related symptoms:
- Hearing impairment
- Cataract
- Hypertension
- Renal insufficiency
- Glaucoma
SOURCES:
ORPHANET
MENDELIAN
More info about NAIL-PATELLA SYNDROME
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). Genetic Heterogeneity of Paget Disease of BoneAlso see PDB2 (OMIM ), caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q21; PDB4 (OMIM ), mapped to chromosome 5q31; PDB5 (OMIM ), caused by mutation in the TNFRSF11B gene (OMIM ) on chromosome 8q24; and PDB6 (OMIM ), caused by mutation in the ZNF687 gene (OMIM ) on chromosome 1q21.Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).
Related symptoms:
- Hearing impairment
- Neoplasm
- Pain
- Bone pain
- Osteolysis
SOURCES:
OMIM
MENDELIAN
More info about PAGET DISEASE OF BONE 3; PDB3
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis
Related symptoms:
- Short stature
- Abnormal facial shape
- Pain
- Depressed nasal bridge
- Brachydactyly
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about FAMILIAL OSTEOCHONDRITIS DISSECANS
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type
Related symptoms:
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about STICKLER SYNDROME TYPE 3
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant MelanomaThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (OMIM ), caused by variation in the CDKN2A gene (OMIM ) on chromosome 9p21; CMM3 (OMIM ), caused by variation in the CDK4 gene (OMIM ) on chromosome 12q14; CMM4 (OMIM ), mapped to chromosome 1p22; CMM5 (OMIM ), caused by variation in the MC1R gene (OMIM ) on chromosome 16q24; CMM6 (OMIM ), caused by variation in the XRCC3 gene (OMIM ) on chromosome 14q32; CMM7 (OMIM ), mapped to chromosome 20q11; CMM8 (OMIM ), caused by variation in the MITF gene (OMIM ) on chromosome 3p13; CMM9 (OMIM ), caused by variation in the TERT gene (OMIM ) on chromosome 5p15; and CMM10 (OMIM ), caused by mutation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (OMIM ), STK11 (OMIM ), PTEN (OMIM ), TRRAP (OMIM ), DCC (OMIM ), GRIN2A (OMIM ), ZNF831, BAP1 (OMIM ), and RASA2 (OMIM ). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) (Davies et al., 2002; Pollock et al., 2003).
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 Is also known as familial atypical mole-malignant melanoma syndrome|b-k mole syndrome|melanoma, familial|dns|dysplastic nevus syndrome, hereditary|cmm|melanoma, cutaneous malignant|mlm|fammm|melanoma, malignant
Related symptoms:
- Neoplasm
- Abnormality of the eye
- Retinopathy
- Nevus
- Neoplasm of the skin
SOURCES:
OMIM
MENDELIAN
More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1
Top 5 symptoms//phenotypes associated to Arthritis and Osteosarcoma
Symptoms // Phenotype |
% cases |
Exostoses |
Common - Between 50% and 80% cases
|
Osteoarthritis |
Common - Between 50% and 80% cases
|
Short stature |
Uncommon - Between 30% and 50% cases
|
Hearing impairment |
Uncommon - Between 30% and 50% cases
|
Sarcoma |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Arthritis and Osteosarcoma. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Neoplasm
Arthropathy
Platyspondyly
Joint stiffness
Pain
Arthralgia
Chondrosarcoma
Midface retrusion
Rare Symptoms - Less than 30% cases
Pathologic fracture
Intellectual disability
Pierre-Robin sequence
Micrognathia
Genu valgum
Retinopathy
Joint hypermobility
Sensorineural hearing impairment
Cleft palate
Depressed nasal bridge
Retinal detachment
Myopia
Pectus carinatum
Joint dislocation
Abnormality of the eye
Anteverted nares
Joint swelling
Delayed skeletal maturation
Cataract
Pectus excavatum
Glaucoma
Skeletal dysplasia
Malar flattening
Glossoptosis
Frontal bossing
Abnormal facial shape
Gait disturbance
Iliac horns
Abnormal toenail morphology
Abnormality of the lower limb
Abnormality of the upper limb
Ridged nail
Concave nail
Aplasia/Hypoplasia of the patella
Aplastic/hypoplastic toenail
Thickening of the lateral border of the scapula
Brachydactyly
Bone pain
Osteolysis
Elevated alkaline phosphatase
Increased susceptibility to fractures
Fractures of the long bones
Patchy osteosclerosis
Severe short stature
Broad hallux
Hyperlordosis
Colon cancer
Long fingers
Abnormal vitreous humor morphology
Abnormal metacarpal morphology
Nevus
Neoplasm of the skin
Melanoma
Melanocytic nevus
Freckling
Mitral valve prolapse
Blue irides
Cutaneous melanoma
Pancreatic adenocarcinoma
Numerous nevi
Uveal melanoma
Oropharyngeal squamous cell carcinoma
Atypical nevus
Atypical nevi in non-sun exposed areas
Spondyloepiphyseal dysplasia
Bifid uvula
Waddling gait
Proportionate short stature
Lumbar hyperlordosis
Short thumb
Accelerated skeletal maturation
Growth abnormality
Back pain
Mild short stature
Limited elbow extension
Disproportionate short stature
Abnormality of tibia morphology
Arachnodactyly
Abnormality of the knee
Low back pain
Osteochondritis Dissecans
Decreased hip abduction
Limited elbow flexion
Quadriceps muscle atrophy
Abnormality of skeletal physiology
Long philtrum
Abnormality of the elbow
Retinoblastoma
Patellar dislocation
Scapular exostoses
Schmorl's node
Heberden's node
Knee osteoarthritis
Morphological abnormality of the central nervous system
Hip pain
Hip osteoarthritis
Beaking of vertebral bodies
Irregular vertebral endplates
Hip dysplasia
Pneumonia
Congestive heart failure
Madelung-like forearm deformities
Protuberances at ends of long bones
Peripheral nerve compression
Rib exostoses
Kyphoscoliosis
Enchondroma
Pelvic bone exostoses
Osteochondroma
Cervical myelopathy
Multiple exostoses
Madelung deformity
Short finger
Hypophosphatemia
Hemangioma
Coxa vara
Short metacarpal
Flat face
Abnormality of the foot
Depressivity
Scoliosis
Cerebral calcification
Glomerulopathy
Premature osteoarthritis
Hypoplastic toenails
Cubitus valgus
Abnormality of the fingernails
Vasculitis
Nephrotic syndrome
Nephropathy
Hematuria
Joint hyperflexibility
Proteinuria
Renal insufficiency
Hypertension
Embryonal neoplasm
Abnormality of metabolism/homeostasis
Enlarged epiphyses
Cleft soft palate
Vertebral segmentation defect
Multiple enchondromatosis
Generalized joint laxity
Lower limb asymmetry
Enlarged joints
Abnormality of fibula morphology
Spondylometaphyseal dysplasia
Skin erosion
Anisospondyly
Vitreoretinopathy
Pretibial blistering
Abnormality of ulnar metaphysis
Metaphyseal enchondromatosis
High myopia
Epiphyseal dysplasia
Abnormal joint morphology
Pancreatic squamous cell carcinoma
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Frontal bossing and Cerebral cortical atrophy, related diseases and genetic alterations
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