Arthritis, and Rigidity

Diseases related with Arthritis and Rigidity

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


Top matches:

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


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

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

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Other less relevant matches:

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME


This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Rigidity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Hypertension Anxiety Behavioral abnormality Dystonia Fatigue Dysarthria Pain Flexion contracture Gait disturbance Aggressive behavior Arthralgia Dysphagia Osteoarthritis Confusion Delayed speech and language development Involuntary movements Generalized hypotonia Abnormality of movement Irritability Hypertonia Tremor Motor delay Talipes equinovarus Clumsiness Short stature Obsessive-compulsive behavior Rheumatoid arthritis Weight loss Abnormality of extrapyramidal motor function Bradykinesia Hearing impairment Focal dystonia Sleep disturbance Gait ataxia

Rare Symptoms - Less than 30% cases


Growth delay Difficulty walking Neoplasm Abnormality of the nervous system Personality changes Abnormal cerebellum morphology Schizophrenia Cerebral palsy Muscle stiffness Hyperlordosis Oral-pharyngeal dysphagia Nephrolithiasis Abnormality of the cerebral white matter Vomiting Intellectual disability, mild Back pain Renal insufficiency Dementia Hematuria Ventriculomegaly Chorea Testicular atrophy Gout Recurrent urinary tract infections Hyperuricemia Self-injurious behavior Infertility Progressive neurologic deterioration Decreased CSF homovanillic acid Impaired vibration sensation in the lower limbs Short finger Progressive flexion contractures Spondyloepiphyseal dysplasia Torticollis Postural tremor Brisk reflexes Lower limb hyperreflexia Epiphyseal dysplasia Skeletal dysplasia Parkinsonism Clinodactyly of the 5th finger Clinodactyly Limb dystonia Brachydactyly Generalized dystonia Muscular hypotonia Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Transient hyperphenylalaninemia Multiple epiphyseal dysplasia Horizontal nystagmus Hypothyroidism Babinski sign Global developmental delay Pes cavus Ataxia Spontaneous abortion Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy Aminoaciduria Increased body weight Depressed nasal bridge Macrocephaly High nonceruloplasmin-bound serum copper Bone pain Decreased liver function Frontal bossing Atypical or prolonged hepatitis Cholestasis Psychosis Abnormality of the skeletal system Hepatitis Ascites Coma Hydrocephalus Malar flattening Midface retrusion Polyneuropathy Obesity Severe short stature Gastroesophageal reflux Hepatic steatosis Conductive hearing impairment Acute hepatitis Poor motor coordination Hypersexuality Renal tubular dysfunction Hypercalciuria Abnormality of mitochondrial metabolism Global brain atrophy Pathologic fracture Glycosuria Osteomalacia Arthropathy Abnormality of blood and blood-forming tissues Joint swelling Hepatocellular carcinoma Hypoparathyroidism Hand tremor Increased reactive oxygen species production Abnormality of the hand Hypocupremia Drooling Acute hepatic failure Chondrocalcinosis Esophageal varix Hyperphosphaturia Neoplasm of the liver Menstrual irregularities Leukoencephalopathy Leukopenia Proximal muscle weakness in lower limbs Nephrocalcinosis Retinoblastoma Abnormality of the menstrual cycle Premature osteoarthritis Cataract Micromelia Cleft lip Central apnea Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Cor pulmonale Abnormality of femur morphology Dysuria Neonatal short-limb short stature Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Chronic myelogenous leukemia Central sleep apnea Spinal canal stenosis Trident hand Intellectual disability, moderate Hemiplegia Status epilepticus Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Limited hip extension Cervical myelopathy Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Abnormality of the elbow Hip contracture Apnea Lumbar hyperlordosis Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Tetraparesis Epidermal acanthosis Overgrowth Short toe Otitis media Lymphoma Oral cleft Bruising susceptibility Joint hyperflexibility Leukemia Scarring Rhizomelia Clonus Neuroblastoma Chronic otitis media Disproportionate short stature Myeloid leukemia Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Genu varum Paraparesis Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Hemolytic anemia Hepatosplenomegaly Hepatic failure Parkinsonism with favorable response to dopaminergic medication Abnormal pyramidal sign Spastic paraplegia Bilateral talipes equinovarus Paraplegia Metatarsus adductus Mild short stature Short middle phalanx of finger Dysphonia Spastic diplegia Gaze-evoked nystagmus Resting tremor Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Oromandibular dystonia Encephalopathy Short metacarpal Stereotypy Cleft palate Choreoathetosis Nephropathy Hip dislocation Small hand Hip dysplasia Writer's cramp Growth abnormality Metaphyseal irregularity Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Abnormality of the knee Flat capital femoral epiphysis Finger clinodactyly Sepsis Thickened skin Depressed nasal ridge Dehydration Premature birth Limitation of joint mobility Sudden cardiac death Everted lower lip vermilion Hand polydactyly Ichthyosis Small for gestational age Proptosis Hyperkeratosis Respiratory failure Recurrent respiratory infections Recurrent skin infections Ectropion Hip subluxation Eclabion Knee pain Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Nystagmus Hypergranulosis Erythroderma Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Hearing abnormality Malignant hyperthermia Foot polydactyly Congenital ichthyosiform erythroderma Spastic gait Proximal placement of thumb Joint hypermobility Edema Upper limb undergrowth Head tremor Chronic bronchitis Dilated fourth ventricle Paranoia Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Oral motor hypotonia Failure to thrive Peripheral neuropathy Hepatomegaly Splenomegaly Cerebellar vermis atrophy Pruritus Cirrhosis Nausea Peripheral axonal neuropathy Paresthesia Poor speech Nausea and vomiting Abnormality of the liver Cerebral atrophy Proteinuria Elevated hepatic transaminase Respiratory insufficiency Jaundice Osteoporosis Thrombocytopenia Restlessness Bronchitis Athetosis Bladder stones Diabetes mellitus Myoclonus Cerebellar atrophy Cognitive impairment Seizures Podagra Excessive purine production Mental deterioration Hyperuricosuria Facial grimacing Dyslexia Megaloblastic anemia Self-mutilation Opisthotonus Hyperactivity Cough Muscle fibrillation Type II diabetes mellitus Hypokinesia Akinesia Slurred speech Incoordination Hyperkinesis Broad-based gait Generalized-onset seizure Abnormality of eye movement Neuronal loss in central nervous system Brain atrophy Gliosis Progressive cerebellar ataxia Neurodegeneration Falls Hemiplegia/hemiparesis



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

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