Arthritis, and Cerebral calcification

Diseases related with Arthritis and Cerebral calcification

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


Top matches:

Low 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

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Low 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

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Other less relevant matches:

Low match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Low 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

Low match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION


Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).

FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION Is also known as hereditary calcium pyrophosphate deposition|familial cc|familial cppd|familial articular chondrocalcinosis|calcium pyrophosphate dihydrate crystal deposition disease|hereditary articular chondrocalcinosis|hereditary cc|chondrocalcinosis with early-onset o

Related symptoms:

  • Seizures
  • Arthralgia
  • Arthritis
  • Limitation of joint mobility
  • Osteoarthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION

Low match CHONDROCALCINOSIS 2; CCAL2


Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis (CCAL1 ) has been mapped to chromosome 8q.

CHONDROCALCINOSIS 2; CCAL2 Is also known as calcium pyrophosphate dihydrate deposition disease|cppdd|calcium gout|chondrocalcinosis, familial articular|calcium pyrophosphate arthropathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Arthralgia
  • Arthritis


SOURCES: MESH OMIM MENDELIAN

More info about CHONDROCALCINOSIS 2; CCAL2

Low match COMPLEMENT COMPONENT 7 DEFICIENCY; C7D


COMPLEMENT COMPONENT 7 DEFICIENCY; C7D Is also known as c7 deficiency

Related symptoms:

  • Fever
  • Arthritis
  • Telangiectasia
  • Meningitis
  • Vasculitis


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT COMPONENT 7 DEFICIENCY; C7D

Top 5 symptoms//phenotypes associated to Arthritis and Cerebral calcification

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fever Anemia Seizures Thrombocytopenia Lymphadenopathy Hypermelanotic macule Hearing impairment Scoliosis Cleft palate Basal ganglia calcification Pneumonia Kyphoscoliosis Platyspondyly Flexion contracture Pain Joint dislocation

Rare Symptoms - Less than 30% cases


Autoimmunity Rheumatoid arthritis Intellectual disability, mild Autoimmune thrombocytopenia Autoimmune hemolytic anemia Immunodeficiency Recurrent respiratory infections Micromelia Purpura Severe short stature Recurrent otitis media Hypothyroidism Vitiligo Skeletal dysplasia Hemolytic anemia Muscular hypotonia Micrognathia Juvenile rheumatoid arthritis Depressivity Abnormality of cardiovascular system morphology Camptodactyly of finger Pierre-Robin sequence Thick lower lip vermilion Bifid uvula Congenital cataract Hyperhidrosis Midface retrusion Immune dysregulation Obesity High palate Low-set ears Abnormal heart morphology Cataract Abnormal facial shape Hypertelorism Abnormality of the skeletal system Depressed nasal bridge Elevated hepatic transaminase Global developmental delay Erythema Scarring Skin rash Hypertriglyceridemia Failure to thrive Lymphopenia Conjunctivitis Hepatosplenomegaly Lipodystrophy Genu valgum Increased antibody level in blood Spondylometaphyseal dysplasia Microcytic anemia Myositis Chondrocalcinosis Finger swelling Panniculitis Hypochromic anemia Pulmonic stenosis Intellectual disability, severe Amenorrhea Hernia Absent speech Behavioral abnormality Sclerodactyly Cerebellar atrophy Atrial septal defect Anal atresia Hydrocephalus Dysmetria Bulbous nose Hypoplasia of the corpus callosum Peripheral demyelination Short neck Ventricular septal defect Hypospadias Patent ductus arteriosus Blepharophimosis Renal agenesis Abnormality of the pinna Mental deterioration Aggressive behavior Anxiety Vesicoureteral reflux Underdeveloped nasal alae Conductive hearing impairment Umbilical hernia Inguinal hernia Pyoderma Retrognathia Hyperactivity Specific learning disability Posteriorly rotated ears Chorea Dementia Joint swelling Generalized hypotonia Delayed speech and language development Overweight C8 deficiency Irregular epiphyses Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Spinal cord compression Abnormality of the clavicle Hip contracture Lethal skeletal dysplasia Ulnar deviation of finger Short finger Proximal placement of thumb Overfolded helix Elbow dislocation Hyperextensible skin Short long bone Disproportionate short-limb short stature Recurrent meningitis Ulnar deviation of the hand Cognitive impairment Glabellar hemangioma Microcephaly Psychosis Vasculitis in the skin Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Hypoplastic cervical vertebrae Visceral angiomatosis Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Subcutaneous calcification Recurrent meningococcal disease Spinal deformities Neonatal short-limb short stature Flattened epiphysis Tetralogy of Fallot Narrow palpebral fissure Low posterior hairline Perimembranous ventricular septal defect Duodenal stenosis Impaired T cell function Arthropathy Right aortic arch Ankylosis Mood swings Platybasia Hypomagnesemia Retinal vascular tortuosity Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Paranoia Giant platelets Truncus arteriosus Right aortic arch with mirror image branching Limitation of joint mobility Abnormality of the intervertebral disk Calcification of cartilage Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Back pain Sacral meningocele Congenital conductive hearing impairment Velopharyngeal insufficiency Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Hyperparathyroidism Psychotic episodes Conotruncal defect Myelomeningocele Delusions Complement deficiency Raynaud phenomenon Dysdiadochokinesis Cholelithiasis Vasculitis Nasal speech Abnormality of the hand Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Meningitis Holoprosencephaly Multicystic kidney dysplasia Hypocalcemia Spina bifida Hallucinations Renal dysplasia Open mouth Primary amenorrhea Psoriasiform dermatitis Apathy Meningocele Submucous cleft hard palate Neck pain Hearing abnormality Abnormality of the outer ear Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Anal stenosis Axonal loss Obsessive-compulsive behavior Abnormality of the ear Myopathic facies Inflammation of the large intestine Polyarticular chondrocalcinosis Telangiectasia Hypoplasia of the brainstem Acne Unilateral renal agenesis Abnormality of the metacarpal bones Rimmed vacuoles Hoarse voice Progressive spastic quadriplegia Visual impairment Sensorineural hearing impairment Strabismus Nystagmus Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Madelung deformity Wide nasal bridge Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Barrel-shaped chest Narrow nose Irregular vertebral endplates Recurrent sinusitis Epicanthus Myopia Restrictive ventilatory defect Hypotrichosis High myopia Otitis media Esotropia Ectodermal dysplasia Hypoplasia of the maxilla Retinal detachment Flat face Sparse hair Frontal bossing Proptosis Glaucoma Brachycephaly Malar flattening Long philtrum Short nose Abnormality of the dentition Anteverted nares Scleroderma Combined immunodeficiency Amblyopia Anisospondyly Hypercholesterolemia Sinusitis Inflammatory abnormality of the skin Dysphagia Metaphyseal enchondromatosis Abnormality of ulnar metaphysis Pretibial blistering Multiple enchondromatosis Calcinosis Skin erosion Abnormality of fibula morphology Enlarged joints Lower limb asymmetry Generalized joint laxity Exostoses Vertebral segmentation defect Delayed skeletal maturation Keratitis Bronchiolitis Spastic diplegia Lumbar hyperlordosis Metaphyseal irregularity Nephritis Systemic lupus erythematosus Encephalitis Recurrent bacterial infections Rhizomelia Abnormal lung morphology Spastic tetraplegia Bronchiolitis obliterans Hepatitis Tetraplegia Abnormality of the cerebral white matter Respiratory tract infection Hyperlordosis Diarrhea Spasticity Bronchiolitis obliterans organizing pneumonia Sparse scalp hair Hypohidrosis Increased bone mineral density Flexion contracture of toe Intrauterine growth retardation Cryptorchidism Growth delay Adipose tissue loss Stiff skin Episcleritis Erythema nodosum Generalized lipodystrophy Talipes equinovarus Clubbing of fingers Abnormally large globe Elevated erythrocyte sedimentation rate Long fingers Glucose intolerance Growth abnormality Elbow flexion contracture Bone pain Macrocephaly Respiratory insufficiency Cardiomegaly Abnormality of the ribs Short phalanx of finger Abnormality of epiphysis morphology Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Blue sclerae Interphalangeal joint contracture of finger Limb undergrowth Kyphosis Hip dysplasia Full cheeks Talipes Joint hyperflexibility Abnormality of the foot Arthrogryposis multiplex congenita Joint stiffness Low-set, posteriorly rotated ears Hyperpigmentation of the skin Prominent nose Sparse and thin eyebrow Thick upper lip vermilion Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Hypoplasia of the zygomatic bone Calcification of falx cerebri Radial bowing Vitreoretinopathy Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Sparse eyelashes Coxa valga Abnormal vitreous humor morphology Macrodontia of permanent maxillary central incisor Macroglossia Congestive heart failure Inability to walk Abnormality of the liver Osteopenia Macrotia Babinski sign Arrhythmia Splenomegaly Edema Irregular proximal tibial epiphyses Skeletal muscle atrophy Hepatomegaly Muscle weakness Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Pyoderma gangrenosum



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