Arthritis, and Joint hypermobility

Diseases related with Arthritis and Joint hypermobility

In the following list you will find some of the most common rare diseases related to Arthritis and Joint hypermobility that can help you solving undiagnosed cases.


Top matches:

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 HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

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 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

Low match PSEUDOACHONDROPLASIA


Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

PSEUDOACHONDROPLASIA Is also known as pseudoachondroplastic dysplasia|pseudoachondroplastic spondyloepiphyseal dysplasia

Related symptoms:

  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Delayed skeletal maturation
  • Arthralgia


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOACHONDROPLASIA

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 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

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

Top 5 symptoms//phenotypes associated to Arthritis and Joint hypermobility

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Arthralgia Uncommon - Between 30% and 50% cases
Joint hyperflexibility Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Exostoses Scoliosis Genu valgum Joint dislocation Genu varum Cataract Micromelia Abnormality of epiphysis morphology Skeletal dysplasia Brachydactyly Delayed skeletal maturation Hip osteoarthritis Joint stiffness Hip dysplasia

Rare Symptoms - Less than 30% cases


Long philtrum Spondyloepiphyseal dysplasia Generalized joint laxity Glaucoma Sensorineural hearing impairment Hearing impairment Cleft palate Myopia Pseudoepiphyses Retinal detachment Irregular epiphyses Disproportionate short-limb short stature Short metacarpal Short palm Abnormal vitreous humor morphology Gait disturbance Premature osteoarthritis Multiple epiphyseal dysplasia Epiphyseal dysplasia Mitral valve prolapse Irregular vertebral endplates Abnormality of the elbow Bowing of the long bones Pain Abnormality of the metaphysis Hyperlordosis Arthropathy Hip pain Pneumonia Joint swelling Concave nail Hypoplasia of the odontoid process Ridged nail Abnormality of the upper limb Abnormality of the lower limb Abnormal toenail morphology Intestinal polyposis Hamartomatous polyposis Irregular carpal bones Patellar dislocation Glomerulopathy Hypertension Hypoplastic toenails Cubitus valgus Aplasia/Hypoplasia of the patella Vasculitis Nephrotic syndrome Nephropathy Hematuria Proteinuria Congestive heart failure Renal insufficiency Abnormality of the fingernails Iliac horns Aplastic/hypoplastic toenail Micrognathia Pierre-Robin sequence Glossoptosis Long fingers Bifid uvula Arachnodactyly Pectus carinatum Retinopathy Pectus excavatum Midface retrusion Malar flattening Anteverted nares Depressed nasal bridge Limited hip movement Thickening of the lateral border of the scapula Short fourth metatarsal Broad femoral neck Small epiphyses Avascular necrosis of the capital femoral epiphysis Ovoid vertebral bodies Delayed epiphyseal ossification Short femoral neck Mild short stature Short phalanx of finger Waddling gait Round face Limitation of joint mobility Severe short stature Abnormality of the hip bone Kyphoscoliosis Pathologic fracture Neoplasm Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Hyperextensible skin Lymphoma Bruising susceptibility Irritability Umbilical hernia Inguinal hernia Fever Metaphyseal enchondromatosis Gingival recession Abnormality of ulnar metaphysis Pretibial blistering Anisospondyly Multiple enchondromatosis Skin erosion Spondylometaphyseal dysplasia Abnormality of fibula morphology Enlarged joints Lower limb asymmetry Abnormality of femur morphology Vertebral segmentation defect Childhood onset short-limb short stature Periodontitis Spinal canal stenosis Short foot Short middle phalanx of finger Cerebral calcification Kyphosis Beaking of vertebral bodies Pseudoepiphyses of the metacarpals Morphological abnormality of the central nervous system Delayed ossification of carpal bones Hyperextensibility of the finger joints Short middle phalanx of the 5th finger Knee osteoarthritis Heberden's node Short 1st metacarpal Metaphyseal dysplasia Cone-shaped epiphysis Abnormality of pelvic girdle bone morphology Schmorl's node Hypodontia Delayed eruption of teeth Abnormality of vertebral epiphysis morphology Macrocephaly Hypoplasia of the maxilla Abnormal form of the vertebral bodies Proptosis Visual loss Short nose Short toe Sleep apnea Abnormal metacarpal morphology



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

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