Arthritis, and Waddling gait

Diseases related with Arthritis and Waddling gait

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


Top matches:

Medium match EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3


Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5


Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 Is also known as multiple epiphyseal dysplasia, matn3-related|polyepiphyseal dysplasia type 5|microepiphyseal dysplasia, bilateral hereditary|edm5|bhmed|med5|bilateral hereditary micro-epiphyseal dysplasia

Related symptoms:

  • Short stature
  • Pain
  • Gait disturbance
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE


Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE Is also known as semd, missouri type|spondyloepimetaphyseal dysplasia type 2|semd type 2

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Skeletal dysplasia
  • Platyspondyly
  • Micromelia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE

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Other less relevant matches:

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE


Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Medium 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

Medium 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

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


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

Medium match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


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

Medium match CZECH DYSPLASIA, METATARSAL TYPE


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

Top 5 symptoms//phenotypes associated to Arthritis and Waddling gait

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Genu varum Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Waddling gait. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Limitation of joint mobility

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Small epiphyses Platyspondyly Brachydactyly Coxa vara Genu valgum Joint stiffness Epiphyseal dysplasia Abnormal joint morphology Muscle weakness Multiple epiphyseal dysplasia Irregular epiphyses Spondyloepiphyseal dysplasia Skeletal dysplasia Mild short stature Scoliosis Kyphoscoliosis Growth abnormality Delayed skeletal maturation Kyphosis Depressed nasal bridge Micromelia Abnormality of epiphysis morphology Flattened epiphysis Short femoral neck Metaphyseal irregularity Irregular vertebral endplates Severe short stature Flexion contracture Difficulty walking Short metacarpal Flared metaphysis Hip dysplasia

Rare Symptoms - Less than 30% cases


Limited elbow extension Joint swelling Abnormality of the knee Short long bone Abnormality of the foot Back pain Hearing impairment Arthropathy Osteochondritis Dissecans Frontal bossing Short palm Flared iliac wings Abnormality of the skeletal system Hypoplasia of the capital femoral epiphysis Coxa valga Limb muscle weakness Delayed epiphyseal ossification Proximal muscle weakness Hip pain Myopathy Knee pain Broad femoral neck Fatigue Bowing of the legs Premature osteoarthritis Abnormality of skeletal physiology Thoracic kyphosis Narrow iliac wings Myopia Quadriceps muscle atrophy Unsteady gait Flat capital femoral epiphysis Enlargement of the proximal femoral epiphysis Limited elbow flexion Decreased hip abduction Low back pain Abnormality of tibia morphology Exostoses Periarticular calcification Proportionate short stature Disproportionate short stature Broad hallux Accelerated skeletal maturation Short thumb Lumbar hyperlordosis Intervertebral space narrowing Trismus Vertebral fusion Interphalangeal joint contracture of finger Decreased cervical spine mobility Sclerotic vertebral endplates Enlarged epiphyses Methylmalonic acidemia Synovitis Juvenile rheumatoid arthritis Morbus Scheuermann Enlarged metacarpophalangeal joints Rheumatoid arthritis Metaphyseal widening Abnormal form of the vertebral bodies Sensorineural hearing impairment Cleft palate Spinal canal stenosis Short toe Camptodactyly of finger Camptodactyly Osteoporosis Mild myopia Short metatarsal Thoracolumbar kyphosis Stiff neck Hypoplastic ilia Hypoplastic pelvis Beaking of vertebral bodies Enlarged interphalangeal joints Hyperlordosis Spondylometaphyseal dysplasia Midface retrusion Metaphyseal dysplasia High forehead Short neck Growth delay Flared, irregular rib ends Irregular sclerotic endplates Pear-shaped vertebrae Short lower limbs Ulnar bowing Metaphyseal cupping Metaphyseal chondrodysplasia Spondyloepimetaphyseal dysplasia Radial bowing Tibial bowing Narrow chest Femoral bowing Rhizomelia Abnormality of the metaphysis Delayed tarsal ossification Flattened femoral head Arthralgia of the hip Delayed ossification of carpal bones Abnormality of the hip joint Mildly elevated creatine phosphokinase Easy fatigability Lower limb muscle weakness Elevated serum creatine phosphokinase Pectus carinatum Small hand Abnormal facial shape Knee osteoarthritis Limited hip movement Short fourth metatarsal Pseudoepiphyses Hip osteoarthritis Avascular necrosis of the capital femoral epiphysis Generalized joint laxity Ovoid vertebral bodies Disproportionate short-limb short stature Joint dislocation Short phalanx of finger Round face Ankle pain Hypodontia Abnormality of the face Irregular, rachitic-like metaphyses Severe carpal ossification delay Irregular acetabular roof Caudal appendage Aplastic clavicle Carpal bone hypoplasia Abnormality of the rib cage Enlarged joints Disproportionate short-trunk short stature Flat acetabular roof Hypoplasia of the odontoid process Short thorax Narrow femoral neck



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