Arthritis, and Gait disturbance

Diseases related with Arthritis and Gait disturbance

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


Top matches:

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6


Related symptoms:

  • Arthralgia
  • Difficulty walking
  • Osteoarthritis
  • Epiphyseal dysplasia
  • Irregular vertebral endplates


SOURCES: OMIM MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Low match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

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Other less relevant matches:

Low 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

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low 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

Low 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

Low 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

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 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

Top 5 symptoms//phenotypes associated to Arthritis and Gait disturbance

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Epiphyseal dysplasia Uncommon - Between 30% and 50% cases
Waddling gait Uncommon - Between 30% and 50% cases
Small epiphyses Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Gait disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Genu varum Abnormality of epiphysis morphology Pain Genu valgum Coxa vara Limitation of joint mobility Irregular epiphyses Multiple epiphyseal dysplasia Arthralgia of the hip Scoliosis Kyphosis Micromelia Proximal muscle weakness Platyspondyly Delayed skeletal maturation Hip dysplasia

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Skeletal dysplasia Falls Flared iliac wings Flat capital femoral epiphysis Abnormal joint morphology Knee pain Broad femoral neck Mild short stature Depressed nasal bridge Flattened epiphysis Short metacarpal Muscle weakness Myopathy Fatigue Hypoplasia of the odontoid process Short palm Limb muscle weakness Hypoplasia of the capital femoral epiphysis Lower limb muscle weakness Abnormality of the metaphysis Difficulty walking Metaphyseal irregularity Bowing of the legs Flared metaphysis Short femoral neck Short lower limbs Osteochondritis Dissecans Delayed ossification of carpal bones Knee osteoarthritis Ulnar bowing Premature osteoarthritis Metaphyseal cupping Hip pain Metaphyseal chondrodysplasia Femoral bowing Flattened femoral head Spondyloepimetaphyseal dysplasia Delayed tarsal ossification Radial bowing Rhizomelia Metaphyseal dysplasia Tibial bowing Limited elbow extension Frontal bossing Pear-shaped vertebrae Hyperlordosis Carpal bone hypoplasia Aplastic clavicle Caudal appendage Irregular acetabular roof Severe carpal ossification delay Irregular, rachitic-like metaphyses Joint hyperflexibility Abnormality of the rib cage Short foot Bowing of the long bones Disproportionate short-limb short stature Abnormality of the hip bone Intestinal polyposis Hamartomatous polyposis Spondylometaphyseal dysplasia Enlarged joints Irregular sclerotic endplates Narrow chest Flared, irregular rib ends Growth delay Brachydactyly Irregular carpal bones High forehead Pectus carinatum Abnormality of the foot Disproportionate short-trunk short stature Small hand Abnormality of the face Hypodontia Growth abnormality Short thorax Flat acetabular roof Short neck Lymphadenopathy Coxa valga Impaired distal proprioception Spastic gait Urinary urgency Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Impaired distal vibration sensation Impaired temperature sensation Demyelinating motor neuropathy Urinary incontinence Demyelinating sensory neuropathy Impaired distal tactile sensation Abnormal brainstem MRI signal intensity Severe short stature Overgrowth Spondyloepiphyseal dysplasia Lower limb spasticity Sensory neuropathy Arthropathy Spasticity Irregular vertebral endplates Abnormality of the knee Schmorl's node Irregular distal femoral epiphysis Flat distal femoral epiphysis Strabismus Peripheral neuropathy Paraplegia Hyperreflexia Babinski sign Pes cavus Dementia Distal muscle weakness Spastic paraplegia Vertebral fusion Avascular necrosis of the capital femoral epiphysis Joint stiffness Pericarditis Myalgia Autoimmunity Skin rash Pleural effusion Rheumatoid arthritis Elevated erythrocyte sedimentation rate Uveitis Abdominal pain Joint swelling Juvenile rheumatoid arthritis Elevated C-reactive protein level Anterior uveitis Serositis Abnormality of the skeletal system Hepatosplenomegaly Visual loss Shallow acetabular fossae Elevated serum creatine phosphokinase Abnormal bone ossification Abnormality of bone mineral density Irregular capital femoral epiphysis Abnormality of the epiphysis of the femoral head Abnormal ossification involving the femoral head and neck Wide proximal femoral metaphysis Easy fatigability Splenomegaly Mildly elevated creatine phosphokinase Delayed epiphyseal ossification Abnormality of the hip joint Visual impairment Hepatomegaly Fever Ankle pain



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