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.
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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
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
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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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
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
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
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
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
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
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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