Arthritis, and Babinski sign

Diseases related with Arthritis and Babinski sign

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Medium match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Medium match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low 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

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Top 5 symptoms//phenotypes associated to Arthritis and Babinski sign

Symptoms // Phenotype % cases
Hyperreflexia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Ataxia Scoliosis Anxiety Pain Hypothyroidism Intellectual disability, mild Pes cavus Seizures Limb dystonia Hepatomegaly Arthralgia Joint stiffness Global developmental delay Growth delay Rheumatoid arthritis Splenomegaly Confusion Nystagmus Motor delay Cognitive impairment Muscle weakness Behavioral abnormality Gait ataxia Recurrent infections Abnormal pyramidal sign Short stature Strabismus Depressivity Aseptic necrosis Talipes equinovarus Impaired vibration sensation in the lower limbs Dilatation Abnormality of the dentition Spasticity Fatigue Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Paresthesia Malabsorption Umbilical hernia Increased intracranial pressure Cataract Immunodeficiency Neurological speech impairment Hypermetropia Optic atrophy Muscular hypotonia Myocardial infarction Sensorineural hearing impairment Genu valgum Areflexia Generalized hypotonia Dental malocclusion Otitis media Abnormality of the liver Gout Lipoma Visual loss Delayed skeletal maturation Aggressive behavior Camptodactyly of finger Dysarthria Abnormality of the skeletal system Delayed speech and language development Erythema nodosum Myositis Synostosis of joints Bone pain Short neck Macroglossia Lymphadenopathy Scarring Kyphoscoliosis Erythema Hepatosplenomegaly Osteopenia Macrotia Headache Cranial nerve paralysis Skeletal muscle atrophy Inguinal hernia Fever Mandibular prognathia Prominent nose Failure to thrive Anemia Postural tremor Obsessive-compulsive behavior Torticollis Lower limb hyperreflexia Generalized dystonia Spastic gait Focal dystonia Horizontal nystagmus Progressive flexion contractures Decreased CSF homovanillic acid Irritability Spastic paraplegia Transient hyperphenylalaninemia Abnormality of the substantia nigra Brisk reflexes Paresis of extensor muscles of the big toe Bradykinesia Paraplegia Sleep disturbance Parkinsonism Rigidity Abnormality of extrapyramidal motor function Gingival overgrowth Tall stature Amblyopia Hallucinations Limb ataxia Iritis Low anterior hairline Prominent supraorbital ridges Retrobulbar optic neuritis Narrow palate Recurrent bacterial infections Widely spaced teeth Heart murmur Chronic otitis media Optic neuritis Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Pleuritis Thrombophlebitis Immunologic hypersensitivity Bronchitis Chorioretinitis Anterior uveitis Increased inflammatory response Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Posterior uveitis Iridocyclitis Bowel incontinence Open bite Bowing of the legs Flat occiput Progressive neurologic deterioration Bowing of the long bones Hypertrichosis Orchitis Myopia Hernia Midface retrusion Cerebral atrophy Malar flattening Kyphosis Cerebellar atrophy Myopathy Intellectual disability, severe Hydrocephalus Ventriculomegaly Frontal bossing Macrocephaly Epicanthus Prominent forehead Depressed nasal bridge Decreased level of D-mannose in urine Hypertelorism Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Recurrent respiratory infections Skeletal dysplasia Abnormality of the helix Progressive cerebellar ataxia Superficial thrombophlebitis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Panuveitis Optic disc pallor Peripheral demyelination Hip dysplasia Decreased antibody level in blood Delayed myelination Gliosis Genital ulcers Coarse facial features Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Dysmetria Epididymitis Abnormality of the foot Abnormality of the cerebral white matter Corneal opacity Broad forehead Pectus carinatum Respiratory tract infection Mental deterioration Reduced ejection fraction Vacuolated lymphocytes Spondylolisthesis Photophobia Retinopathy Developmental regression Myalgia Pericarditis Hemoptysis Pulmonary embolism Uveitis Pustule Pulmonary infiltrates Gangrene Raynaud phenomenon Stroke Dyspnea Reduced visual acuity Cerebral ischemia Abnormal myocardium morphology Weight loss Arterial thrombosis Recurrent aphthous stomatitis Glaucoma Abdominal pain Alopecia Renal insufficiency Autoimmunity Cough Stomatitis Anorexia Venous thrombosis Pleural effusion Acne Inflammation of the large intestine Epiphora Aortic regurgitation Pancreatitis Vasculitis Meningitis Blurred vision Subcutaneous nodule Keratoconjunctivitis sicca Mitral regurgitation Hemiparesis Abnormal blistering of the skin Memory impairment Gastrointestinal hemorrhage Migraine Chest pain Vertigo Nausea and vomiting Glomerulopathy Papule Diarrhea Blindness Craniofacial hyperostosis Spondylolysis Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Oligosacchariduria Flattened moderately deformed vertebrae Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Encephalitis Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Synovial hypertrophy Spinocerebellar tract disease in lower limbs Pelvic bone exostoses Hypoplasia of the ulna Abnormal pericardium morphology Chondrosarcoma Multiple exostoses Madelung deformity Abnormality of the humerus Abnormality of femur morphology Abnormality of tibia morphology Abnormality of the upper limb Radial bowing Exostoses Hemiplegia/hemiparesis Anteverted nares Alopecia areata Persistent left superior vena cava Endocarditis Elbow dislocation Oral ulcer Abnormality of pelvic girdle bone morphology Osteolysis Abnormality of the metaphysis Osteoarthritis Recurrent fractures Micromelia Pseudoarthrosis Bulbous nose Varicocele Respiratory insufficiency Sensorimotor neuropathy Progressive muscle weakness Progressive visual loss Tetraplegia Neonatal hypotonia Cerebral cortical atrophy Pneumonia Elevated serum creatine phosphokinase Hyporeflexia Absent speech Dysphagia Recurrent upper respiratory tract infections Visual impairment Abnormal adipose tissue morphology Increased HDL cholesterol concentration Neuropathic arthropathy Decreased LDL cholesterol concentration Alcoholism Hyperlipoproteinemia Oligomenorrhea Macrocytic anemia Arthropathy Multiple lipomas Drooling Decreased nerve conduction velocity Coronary artery atherosclerosis Elevated hepatic transaminase Growth abnormality Conjunctivitis Elbow flexion contracture Lymphopenia Hyperpigmentation of the skin Hypertriglyceridemia Thick lower lip vermilion Cardiomegaly Inability to walk Skin rash Hyperhidrosis Arnold-Chiari type I malformation Arrhythmia Thrombocytopenia Congestive heart failure Edema Flexion contracture Spinal cord posterior columns myelin loss Parietal cortical atrophy Increased urinary hypoxanthine Muscle mounding Pancreatic fibrosis Low frustration tolerance Axonal degeneration Oral-pharyngeal dysphagia Glucose intolerance Impaired distal proprioception Hyperlordosis Difficulty walking Encephalopathy Dystonia Hypertonia Tremor Abnormal brainstem MRI signal intensity Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired temperature sensation Abnormal cerebellum morphology Impaired distal vibration sensation Progressive spastic paraplegia Urinary urgency Lower limb spasticity Urinary incontinence Sensory neuropathy Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Proximal muscle weakness Dementia Abnormality of movement Involuntary movements Abnormality of mitochondrial metabolism Obsessive-compulsive trait Ragged-red muscle fibers Reduced tendon reflexes Hoarse voice Insulin resistance Abnormality of the skin Muscle cramps Polyneuropathy Tachycardia Diabetes mellitus Fixed facial expression Infantile encephalopathy Cerebral palsy Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Hyperactive deep tendon reflexes Resting tremor Gaze-evoked nystagmus Spastic diplegia Dysphonia Lipodystrophy Increased antibody level in blood Expressive language delay Low posterior hairline Abnormality of the hand Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Broad thumb Recurrent otitis media Short palpebral fissure Interphalangeal joint contracture of finger Abnormality of the voice Apraxia Coarctation of aorta Hypoplasia of penis Microdontia Underdeveloped nasal alae Broad nasal tip Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Hirsutism Nasal speech Trigonocephaly Smooth philtrum Enuresis Short upper lip Spinal dysraphism Stiff neck Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia Enlarged joints 11 pairs of ribs Villous atrophy Short attention span Language impairment Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Sprengel anomaly Short clavicles Proportionate short stature Celiac disease High pitched voice Preauricular pit Impulsivity Clubbing Thin vermilion border Joint hyperflexibility Long fingers Episcleritis Brachydactyly High palate Low-set ears Cryptorchidism Abnormal facial shape Micrognathia Microcephaly Adipose tissue loss Finger swelling Stiff skin Panniculitis Intrauterine growth retardation Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Rimmed vacuoles Basal ganglia calcification Microcytic anemia Elevated erythrocyte sedimentation rate Hypermelanotic macule Wide nasal bridge Atrial septal defect Poor speech Conductive hearing impairment Small for gestational age Prominent nasal bridge Short philtrum Craniosynostosis Wide mouth Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Telecanthus Joint laxity Hydronephrosis Deeply set eye Vomiting Thin upper lip vermilion Gastroesophageal reflux Hyperactivity Upslanted palpebral fissure Posteriorly rotated ears Constipation Clinodactyly of the 5th finger Abnormal heart morphology Clinodactyly Hypospadias Abnormality of cardiovascular system morphology Hypopyon



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