Motor delay, and Rheumatoid arthritis

Diseases related with Motor delay and Rheumatoid arthritis

In the following list you will find some of the most common rare diseases related to Motor delay and Rheumatoid arthritis that can help you solving undiagnosed cases.


Top matches:

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

Medium match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Medium match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Medium 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

Medium match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Medium match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Top 5 symptoms//phenotypes associated to Motor delay and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Juvenile rheumatoid arthritis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hearing impairment Depressivity Edema Failure to thrive Seizures Thrombocytopenia Arthralgia Ataxia Fever Retinopathy Respiratory tract infection Abnormality of the skeletal system Neutropenia Fatigue Skin rash Irritability Nystagmus Scoliosis Hypothyroidism Behavioral abnormality Recurrent infections Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Visual impairment Myopia High palate Muscular hypotonia Autoimmunity Macrocephaly Abnormal facial shape Delayed speech and language development Hepatitis Growth delay Generalized hypotonia Abnormal lung morphology Low-set ears Incoordination Recurrent bacterial infections Encephalitis Weak cry Laryngomalacia Corneal opacity Joint stiffness Pneumonia Weight loss Immunodeficiency Aciduria Abnormality of the cerebral white matter Dementia Macular edema Bronchitis Skeletal dysplasia Recurrent skin infections Lymphadenopathy Meningitis Purpura Clumsiness Lumbar hyperlordosis Otitis media Abnormality of skin pigmentation Blindness Retinal degeneration Astigmatism Small for gestational age Nyctalopia Scleroderma Thin upper lip vermilion Mandibular prognathia Diabetes mellitus Rod-cone dystrophy Hernia Dilatation Diarrhea Feeding difficulties in infancy Kyphoscoliosis Hepatosplenomegaly Abnormality of movement Obsessive-compulsive behavior Involuntary movements Encephalopathy Rigidity Dystonia Anxiety Gait ataxia Hyperlordosis Bradykinesia Gait disturbance Tremor Abnormal cerebellum morphology Hepatomegaly Respiratory distress Spastic diplegia Splenomegaly Kyphosis Spasticity Osteoporosis Hypertension Hyperreflexia Recurrent respiratory infections Septic arthritis Paranoia Brachydactyly Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Testicular atrophy Recurrent cutaneous abscess formation Leukocytosis Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Frontal bossing Proptosis Elevated erythrocyte sedimentation rate Premature birth Progressive sensorineural hearing impairment Abnormal joint morphology Joint dislocation Vasculitis Increased intracranial pressure Arthropathy Amyloidosis Migraine Abnormality of the tonsils Uveitis Pyoderma Nausea and vomiting Papule Reduced bone mineral density Urticaria Myalgia EEG abnormality Overgrowth Hyperkinesis Muscle fibrillation Decreased methionine synthase activity Lymph node hypoplasia Cerebellar atrophy Ventriculomegaly Dysphagia Dysarthria Enteroviral dermatomyositis syndrome Cognitive impairment Cystathioninemia Cystathioninuria Decreased adenosylcobalamin Hyperactivity Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Glossitis Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Stomatitis Megaloblastic anemia Macrocytic anemia Myoclonus Aggressive behavior Hypokinesia Generalized-onset seizure Akinesia Personality changes Slurred speech Abnormal thrombocyte morphology Epididymitis Schizophrenia Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Neuronal loss in central nervous system Mental deterioration Brain atrophy Prostatitis Chorea Gliosis Progressive cerebellar ataxia Neurodegeneration Falls Infertility Abnormality of eye movement Cough Thymoma Pseudopapilledema Delayed closure of the anterior fontanelle Severe short stature Hypopigmented skin patches on arms Neoplasm Tetraplegia Hemolytic anemia Micromelia Myopathy Alopecia Platyspondyly Malabsorption Sepsis Decreased antibody level in blood Cerebral calcification Recurrent urinary tract infections Chronic diarrhea Telangiectasia Intellectual disability, mild Sinusitis Skin ulcer Soft tissue swelling of interphalangeal joints Lymphopenia Recurrent pneumonia Hypocalcemia Arthralgia/arthritis Metaphyseal sclerosis Deficiency of N-acetylglucosamine-1-phosphotransferase Restrictive ventilatory defect Immune dysregulation Barrel-shaped chest Narrow nose Irregular vertebral endplates Vitiligo Autoimmune thrombocytopenia Recurrent sinusitis Autoimmune hemolytic anemia Basal ganglia calcification Hypermelanotic macule Combined immunodeficiency Spastic tetraplegia Metaphyseal irregularity Nephritis Systemic lupus erythematosus Cellular immunodeficiency Rhizomelia Tubulointerstitial fibrosis Decrease in T cell count Madelung deformity Recurrent otitis media Progressive spastic quadriplegia Conjunctivitis Subperiosteal bone resorption Elevated C-reactive protein level Umbilical hernia Bone pain Thickened skin Split hand Cardiomegaly Specific learning disability Hip dysplasia Nevus Myelopathy Wide nose Craniosynostosis Coarse facial features Opacification of the corneal stroma Osteopenia Prominent forehead Flexion contracture Pain Abnormal granulocyte morphology Retrobulbar optic neuritis Spondylometaphyseal dysplasia Abnormality of the lymphatic system Abnormality of neutrophils Inflammatory abnormality of the eye Short ribs Cor pulmonale Increased serum beta-hexosaminidase Mucopolysacchariduria Increased serum iduronate sulfatase activity Irregular carpal bones Hypopigmented skin patches Hyperopic astigmatism Chronic otitis media Vascular tortuosity J-shaped sella turcica Pancytopenia Retinal vascular tortuosity Shallow acetabular fossae Carpal bone hypoplasia Aortic regurgitation Constrictive median neuropathy Osteomyelitis Abnormality of the optic nerve Cellulitis Broad ribs Dysostosis multiplex Glossoptosis Agammaglobulinemia Visual field defect Short long bone Psychosis Macrodontia Abnormality of the skin Cryptorchidism Obesity Microphthalmia Malar flattening Cardiomyopathy Ventricular septal defect Downslanted palpebral fissures Optic atrophy Intrauterine growth retardation Depressed nasal bridge Ptosis Cataract Visual loss Strabismus Micrognathia Hypertelorism Microcephaly Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Psychomotor deterioration Histiocytosis Nonimmune hydrops fetalis Pectus excavatum Clinodactyly of the 5th finger Pulmonary fibrosis Stroke Smooth philtrum Joint hyperflexibility Genu valgum Delayed puberty Synophrys Severe global developmental delay Neurological speech impairment Finger syndactyly Prominent nasal bridge Short philtrum Wide mouth Cerebellar hypoplasia Paralysis Protruding ear Postnatal growth retardation Intellectual disability, moderate Joint laxity Neonatal hypotonia Pes planus Retrognathia Macrotia Gastroesophageal reflux Reduced visual acuity Joint swelling Decreased muscle mass Joint hypermobility Horizontal nystagmus Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Brisk reflexes Postural tremor Dysphonia Cerebral palsy Torticollis Abnormality of extrapyramidal motor function Generalized dystonia Parkinsonism Sleep disturbance Confusion Paraplegia Spastic paraplegia Abnormal pyramidal sign Difficulty walking Pes cavus Babinski sign Hypertonia Talipes equinovarus Limb dystonia Focal dystonia Abnormality of vision Paresis of extensor muscles of the big toe Spontaneous abortion Hoarse voice Hydrops fetalis Decreased liver function Subcutaneous nodule Ascites Nephropathy Abnormality of the eye Jaundice Respiratory insufficiency Decreased CSF homovanillic acid Upper motor neuron dysfunction Abnormality of the substantia nigra Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Arachnodactyly Thick eyebrow Lethargy Iris atrophy Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Thick hair High-pitched cry Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Chorioretinal dysplasia Thick corpus callosum Posterior subcapsular cataract Decreased mean corpuscular volume Microtia Developmental regression Acidosis Abnormal heart morphology Epicanthus Feeding difficulties Photoreceptor layer loss on macular OCT Ring scotoma Decreased serum iron Epiretinal membrane Elliptocytosis Prominent eyelashes Retinal pigment epithelial atrophy Poikilocytosis Anisocytosis Retinal atrophy Optic disc pallor Pallor Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Gingivitis Hiatus hernia Iris coloboma Growth hormone deficiency Long eyelashes Tall stature Open mouth High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge Prominent nose Gingival overgrowth Short metacarpal Hypoplasia of the maxilla Microcornea Single transverse palmar crease Tapered finger Highly arched eyebrow Retinal detachment Small hand High, narrow palate Thick vermilion border Retinal dystrophy Exotropia Abnormality of retinal pigmentation Peripheral visual field loss Cubitus valgus Thoracic scoliosis Subcapsular cataract Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Failure to thrive in infancy Progressive microcephaly Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Enteroviral hepatitis



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