Arthritis, and Genu valgum

Diseases related with Arthritis and Genu valgum

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


Top matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE


Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Platyspondyly
  • Genu valgum
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

Medium match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

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

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Other less relevant matches:

Medium 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

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 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

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

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

Top 5 symptoms//phenotypes associated to Arthritis and Genu valgum

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Genu varum Common - Between 50% and 80% cases
Abnormality of epiphysis morphology Uncommon - Between 30% and 50% cases
Epiphyseal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Genu valgum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Delayed skeletal maturation Limitation of joint mobility Arthralgia Multiple epiphyseal dysplasia Scoliosis Waddling gait Platyspondyly Micromelia Enlarged joints Small epiphyses Coxa vara Short palm Pain Irregular epiphyses Premature osteoarthritis Hip dysplasia Joint dislocation

Rare Symptoms - Less than 30% cases


Spondylometaphyseal dysplasia Kyphosis Short neck Brachydactyly Depressed nasal bridge Short femoral neck Frontal bossing Hypoplasia of the odontoid process Kyphoscoliosis Generalized joint laxity Broad femoral neck Hypoplasia of the capital femoral epiphysis Pectus carinatum Disproportionate short-limb short stature Abnormal joint morphology Bowing of the legs Short metacarpal Joint stiffness Spondyloepiphyseal dysplasia Fatigue Short thorax Hearing impairment Mild short stature Irregular vertebral endplates Agenesis of corpus callosum Pseudoepiphyses Inguinal hernia Finger syndactyly Polyhydramnios Hip osteoarthritis Hip dislocation Avascular necrosis of the capital femoral epiphysis Ovoid vertebral bodies Delayed epiphyseal ossification Clinodactyly Abnormality of the lower limb Short fourth metatarsal Pectus excavatum Short phalanx of finger Malar flattening Macrocephaly Motor delay Low-set ears Abnormal facial shape Hypertelorism Irregular carpal bones Hamartomatous polyposis Intestinal polyposis Abnormality of the hip bone Obesity Molar tooth sign on MRI Brain atrophy Osteochondritis Dissecans Hypophosphatemic rickets Spinal canal stenosis Renal phosphate wasting Muscle weakness Myopathy Proximal muscle weakness Hypodontia Osteomalacia Hyperparathyroidism Rickets Hypercalciuria Elevated alkaline phosphatase Bone pain Flattened epiphysis Lymphedema Generalized muscle weakness Knee osteoarthritis Muscle cramps Delayed eruption of teeth Ankle pain Carious teeth Severe short stature Dolichocephaly Round face Craniosynostosis Abnormality of the dentition Sensorineural hearing impairment Hypophosphatemia Abnormality of the face Bowing of the long bones Abnormal vitreous humor morphology Delayed tarsal ossification Flattened femoral head Arthralgia of the hip Knee pain Hip pain Delayed ossification of carpal bones Metaphyseal irregularity Coxa valga Abnormality of the skeletal system Membranous vitreous appearance Erosive vitreoretinopathy Posterior vitreous detachment Rhegmatogenous retinal detachment Vitreoretinopathy Cerebral calcification Epiphora Retinal detachment Nyctalopia Skeletal dysplasia Retrognathia Blindness Myopia Epicanthus Visual impairment Cataract Cleft palate Flat capital femoral epiphysis Proportionate short stature Intellectual disability Vertebral segmentation defect Abnormality of the metaphysis Flared metaphysis Short foot Joint hyperflexibility Hyperlordosis Irregular, rachitic-like metaphyses Severe carpal ossification delay Irregular acetabular roof Caudal appendage Aplastic clavicle Carpal bone hypoplasia Abnormality of the rib cage Flared iliac wings Disproportionate short-trunk short stature Flat acetabular roof Growth abnormality Exostoses Small hand Abnormality of the foot Narrow chest High forehead Growth delay Metaphyseal enchondromatosis Abnormality of ulnar metaphysis Pretibial blistering Anisospondyly Multiple enchondromatosis Skin erosion Abnormality of fibula morphology Lower limb asymmetry Limited hip movement



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

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