Flexion contracture, and Osteoarthritis

Diseases related with Flexion contracture and Osteoarthritis

In the following list you will find some of the most common rare diseases related to Flexion contracture and Osteoarthritis that can help you solving undiagnosed cases.

Top matches:

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Other less relevant matches:

Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low match ALKAPTONURIA

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Top 5 symptoms//phenotypes associated to Flexion contracture and Osteoarthritis

Symptoms // Phenotype % cases
Pain Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Abnormal joint morphology Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Osteoarthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arthropathy Cleft palate Skeletal dysplasia Kyphosis Short stature Joint stiffness Platyspondyly Spondyloepiphyseal dysplasia Hearing impairment Brachydactyly Waddling gait Joint swelling Kyphoscoliosis Osteoporosis Growth abnormality Bruising susceptibility Abnormality of the skeletal system Severe short stature Joint dislocation Inguinal hernia Coxa vara Umbilical hernia Back pain Gait disturbance

Rare Symptoms - Less than 30% cases

Dilatation Chronic pain Short metacarpal Micromelia Hernia Midface retrusion Abnormality of the knee Abnormality of the metaphysis Short finger Pes planus Soft skin Flat capital femoral epiphysis Subarachnoid hemorrhage Striae distensae Enlarged joints Blue sclerae Arachnodactyly Clinodactyly of the 5th finger Epiphyseal dysplasia Joint laxity Mitral regurgitation Micrognathia Hypoplastic pelvis Abnormal form of the vertebral bodies Hypoplastic ilia Metaphyseal irregularity Vertebral fusion Intervertebral disc degeneration Irregular vertebral endplates Camptodactyly Short long bone Camptodactyly of finger Flared metaphysis Interphalangeal joint contracture of finger Aortic aneurysm Low back pain Cataract Difficulty walking Myopia Muscle weakness Depressed nasal bridge Hip osteoarthritis Abnormal enchondral ossification Cervical instability Anisospondyly Severe platyspondyly Pseudoarthrosis Flared femoral metaphysis Hypoplastic cervical vertebrae Hydrocephalus Abnormal metaphyseal vascular invasion Short diaphyses Flared humeral metaphysis Snail-like ilia Relatively short spine Thoracic aortic aneurysm Osteochondritis Dissecans Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Caudal appendage Spondylometaphyseal dysplasia Abnormality of the intervertebral disk Short ribs Prominent forehead Respiratory failure High forehead Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Hyperplasia of the femoral trochanters Confusion Peripheral axonal neuropathy Limb undergrowth Knee osteoarthritis Abnormality of the ribs Uterine prolapse Protrusio acetabuli Long thorax Abdominal aortic aneurysm Akinesia Multiple joint contractures Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Dural ectasia Flared iliac wings Arterial tortuosity Respiratory insufficiency Rough bone trabeculation Thoracic kyphoscoliosis Narrow chest Hearing abnormality Absent primary metaphyseal spongiosa Hip dislocation Rhizomelia Abnormality of epiphysis morphology Recurrent otitis media High myopia Round face Retinal detachment Retinopathy Neonatal respiratory distress Hyperlordosis Conductive hearing impairment Retrognathia Proptosis Glaucoma Depressivity Malar flattening Ectopia lentis Short thorax Respiratory distress Coronal cleft vertebrae Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Rhegmatogenous retinal detachment Lens luxation Enlarged thorax Disproportionate short-trunk short stature Chorioretinal atrophy Tracheal stenosis Delayed epiphyseal ossification Vitreoretinopathy Bell-shaped thorax Glossoptosis Tracheomalacia Hip contracture Short nose Short neck Cognitive impairment Aminoaciduria Hyperparathyroidism Abnormality of the ear Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Atherosclerosis Abnormality of the nail Irregular hyperpigmentation Nephrolithiasis Myocardial infarction Aciduria Abnormality of skin pigmentation Abnormality of the eye Abnormality of metabolism/homeostasis Hypertension Abnormal heart valve morphology Ankylosis Macrocephaly Tendon rupture Motor delay Ptosis Ochronosis Pigmentation of the sclera Tendonitis Intervertebral disk calcification Thickened Achilles tendon Coronary artery calcification Aortic dissection Prostatitis Cartilage destruction Calcification of cartilage Mitral valve calcification Aortic valve calcification Dark urine Abnormality of the nose Spondylolisthesis Generalized joint laxity Dilatation of the cerebral artery Joint hemorrhage Narrow femoral neck Anemia Peripheral neuropathy Blindness Stroke Muscular dystrophy Hematuria Gastrointestinal hemorrhage Intracranial hemorrhage Thromboembolism Abnormality of the elbow Dyschromatopsia Prolonged partial thromboplastin time Stomatitis Spontaneous hematomas Intervertebral space narrowing Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Intramuscular hematoma Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Generalized hypotonia Muscular hypotonia Talipes equinovarus Clinodactyly Rigidity Small hand Hip dysplasia Periarticular calcification Narrow iliac wings Mild short stature Rheumatoid arthritis Limb muscle weakness Genu valgum Unsteady gait Coxa valga Spinal canal stenosis Trismus Beaking of vertebral bodies Stiff neck Thoracolumbar kyphosis Hip pain Mild myopia Abnormality of the foot Genu varum Metaphyseal widening Juvenile rheumatoid arthritis Thoracic kyphosis Morbus Scheuermann Short femoral neck Short metatarsal Short toe Limitation of joint mobility Sensorineural hearing impairment Enlarged metacarpophalangeal joints Enlargement of the proximal femoral epiphysis Synovitis Enlarged interphalangeal joints Decreased cervical spine mobility Sclerotic vertebral endplates Enlarged epiphyses Methylmalonic acidemia Flattened epiphysis Short middle phalanx of finger Metatarsus adductus Slender finger Alveolar bone loss around teeth Premature loss of teeth Gingival bleeding Gingivitis Periodontitis Mitral stenosis Premature loss of primary teeth Poor wound healing Cigarette-paper scars Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Atrophy of alveolar ridges Hypertelorism Skin vesicle Ventricular hypertrophy Abnormality of the sternum Disproportionate tall stature Bicuspid aortic valve Aortic regurgitation Left ventricular hypertrophy Atrial fibrillation Mitral valve prolapse High palate Dental malocclusion Migraine Pulmonic stenosis Patent ductus arteriosus Headache Atrial septal defect Fragile skin Long nose Bilateral talipes equinovarus Carious teeth Multiple epiphyseal dysplasia Hip subluxation Knee pain Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Neoplasm Edema Abnormality of the dentition Recurrent infections Erythema Scarring Autoimmunity Joint hyperflexibility Atrophic scars Osteolysis Agenesis of permanent teeth Hypermelanotic macule Urticaria Dermal atrophy Hyperextensible skin Cutis laxa Vasculitis Joint hypermobility Hoarse voice Gingival overgrowth Tall stature Thin skin Fine hair Microdontia Abnormal cartilage collagen


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