Arthritis, and Micromelia

Diseases related with Arthritis and Micromelia

In the following list you will find some of the most common rare diseases related to Arthritis and Micromelia 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 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

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 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

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 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 MULTIPLE OSTEOCHONDROMAS


Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

MULTIPLE OSTEOCHONDROMAS Is also known as multiple cartilaginous exostoses|bessel-hagen disease

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE OSTEOCHONDROMAS

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Medium match METATROPIC DYSPLASIA


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

Top 5 symptoms//phenotypes associated to Arthritis and Micromelia

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
Scoliosis Common - Between 50% and 80% cases
Platyspondyly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Genu valgum

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of epiphysis morphology

Common Symptoms - More than 50% cases


Abnormality of the metaphysis

Uncommon Symptoms - Between 30% and 50% cases


Skeletal dysplasia Kyphosis Brachydactyly Limitation of joint mobility Gait disturbance Hyperlordosis Epiphyseal dysplasia Hypoplasia of the odontoid process Arthralgia Waddling gait Severe short stature Coxa vara Small epiphyses Delayed skeletal maturation Cleft palate Short thorax Spondyloepiphyseal dysplasia Short palm

Rare Symptoms - Less than 30% cases


Myopia Talipes equinovarus Narrow chest Cataract Flat face Retinal detachment Mild short stature Short metacarpal Disproportionate short-limb short stature Muscle weakness Depressed nasal bridge Hip dysplasia Hearing impairment Abnormal joint morphology Multiple epiphyseal dysplasia Irregular epiphyses Joint stiffness Short femoral neck Limb undergrowth Hypertelorism Delayed epiphyseal ossification Flattened epiphysis Radial bowing Irregular vertebral endplates Intellectual disability Joint hyperflexibility Bowing of the long bones Abnormality of pelvic girdle bone morphology Abnormality of femur morphology Metaphyseal irregularity Abnormal form of the vertebral bodies Spondyloepimetaphyseal dysplasia Flared iliac wings Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Flexion contracture Respiratory insufficiency Hydrocephalus Midface retrusion Clinodactyly of the 5th finger Hyperplasia of the femoral trochanters Prominent forehead Respiratory failure High forehead Kyphoscoliosis Halberd-shaped pelvis Narrow greater sacrosciatic notches Hypoplastic pubic bone Anterior rib cupping Pectus carinatum Pelvic bone exostoses Respiratory distress Hernia Inguinal hernia Osteopenia Pes planus Proportionate short stature Protuberant abdomen Increased bone mineral density Hemangioma Short long bone Abnormality of the urinary system Abnormality of the sternum Disproportionate short stature Low-set, posteriorly rotated ears Camptodactyly of finger Arthrogryposis multiplex congenita Severe platyspondyly Thoracic kyphoscoliosis Long thorax Abnormality of the intervertebral disk Caudal appendage Snail-like ilia Pseudoarthrosis Cervical instability Rough bone trabeculation Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Flared humeral metaphysis Relatively short spine Spondylometaphyseal dysplasia Confusion Abnormal metaphyseal vascular invasion Peripheral axonal neuropathy Dumbbell-shaped metaphyses Abnormal pericardium morphology Long coccyx Abnormality of the ribs Interphalangeal joint contracture of finger Short ribs Enlarged joints Akinesia Multiple joint contractures Short finger Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Synostosis of joints Exostoses Chondrosarcoma Pain Childhood onset short-limb short stature Abnormality of the hip bone Intestinal polyposis Hamartomatous polyposis Irregular carpal bones Abnormality of the elbow Spinal canal stenosis Short foot Frontal bossing Myopathy Proximal muscle weakness Hypodontia Sleep apnea Short toe Rhizomelia Bowing of the legs Osteochondritis Dissecans Metaphyseal chondrodysplasia Pear-shaped vertebrae Irregular sclerotic endplates Flared, irregular rib ends Ulnar bowing Metaphyseal cupping Nystagmus Short neck Flared metaphysis Metaphyseal dysplasia Glaucoma Broad forehead Tibial bowing Limited elbow extension Femoral bowing Hypoplasia of the capital femoral epiphysis Knee osteoarthritis Multiple exostoses Hemiplegia/hemiparesis Abnormal pyramidal sign Recurrent fractures Bone pain Osteolysis Cranial nerve paralysis Elbow dislocation Hypoplasia of the ulna Abnormality of the dentition Aseptic necrosis Short lower limbs Abnormality of the upper limb Abnormality of tibia morphology Abnormality of the humerus Madelung deformity Dilatation Anteverted nares Ankle pain Generalized joint laxity Macrocephaly Round face Short phalanx of finger Joint dislocation Flat capital femoral epiphysis Ovoid vertebral bodies Avascular necrosis of the capital femoral epiphysis Failure to thrive Broad femoral neck Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement Neoplasm Absent primary metaphyseal spongiosa



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

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