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:

Low match EXOSTOSES, MULTIPLE, TYPE I


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

Low match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


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

Low match DYSSPONDYLOENCHONDROMATOSIS


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:

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


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

Low match OSTEOGENIC SARCOMA


OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

Related symptoms:

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about OSTEOGENIC SARCOMA

Low match NAIL-PATELLA SYNDROME


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

Low match PAGET DISEASE OF BONE 3; PDB3


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

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


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

Low match STICKLER SYNDROME TYPE 3


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

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Proptosis, related diseases and genetic alterations

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