Arthritis, and Lymphedema

Diseases related with Arthritis and Lymphedema

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


Top matches:

Medium match MELORHEOSTOSIS


Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

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Other less relevant matches:

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match BURULI ULCER, SUSCEPTIBILITY TO


Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Low match IMMUNODEFICIENCY 53; IMD53


Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthritis
  • Respiratory tract infection
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 53; IMD53

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 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34


DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see {147679}) may be effective if started early (summary by Nakanishi et al., 2017).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Fever
  • Edema
  • Headache


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34

Top 5 symptoms//phenotypes associated to Arthritis and Lymphedema

Symptoms // Phenotype % cases
Edema Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Joint swelling Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperostosis Pain Abnormality of epiphysis morphology Joint dislocation Bone pain Seizures Frontal bossing Dilatation Fever Short stature Hypertension

Rare Symptoms - Less than 30% cases


Recurrent urinary tract infections Headache Macrocephaly Subcutaneous nodule Ectodermal dysplasia Abnormality of the metaphysis Recurrent fractures Visual impairment Papule Mandibular prognathia Myalgia Genu valgum Anemia Renal insufficiency Abnormality of the dentition Hyperhidrosis Recurrent infections Optic atrophy Strabismus Generalized osteosclerosis Sensorineural hearing impairment Hemangioma Nevus Joint stiffness Scleroderma Hypertelorism Skeletal dysplasia Atypical scarring of skin Abnormality of the skeletal system Increased bone mineral density Skeletal muscle atrophy Progressive hearing impairment Chronic pain Flexion contracture Osteomyelitis Immunodeficiency Osteopoikilosis Cranial nerve paralysis Renal tubular dysfunction Aortic root aneurysm Abnormality of lipid metabolism Tubulointerstitial nephritis Edema of the lower limbs Abnormal EKG Xerostomia Transient ischemic attack Peripheral arterial stenosis Elevated serum creatinine Chronic obstructive pulmonary disease Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Angina pectoris Tubular atrophy Clubbing of fingers Renal tubular acidosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Wheezing Failure to thrive Glycosuria Ventricular arrhythmia Glomerulosclerosis Hemiplegia Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Reduced bone mineral density Personality changes Ischemic stroke Corneal dystrophy Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Hyperlipidemia Purpura Aminoaciduria Polydipsia Heart murmur Abnormal heart valve morphology Impotence Glomerulopathy Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Bundle branch block Clubbing Loss of consciousness High-frequency hearing impairment Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Abnormal myocardium morphology Vascular skin abnormality Asymmetric septal hypertrophy Tortuosity of conjunctival vessels Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Hyperkeratotic papule Abnormality of the common coagulation pathway Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Increased glomerular filtration rate Abnormal glomerular filtration rate Coronary artery stenosis Conjunctivitis Conical incisor Periorbital edema Cellulitis Hypodontia Dry skin Cervical lymphadenopathy Urticaria Migraine Cornea verticillata Lymphadenopathy Calcification of cartilage Abnormality of the intervertebral disk Chondrocalcinosis Limitation of joint mobility Polyarticular arthritis Respiratory tract infection Concentric hypertrophic cardiomyopathy Shortened PR interval Abnormal mitral valve morphology Abnormality of the renal tubule Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormal thrombosis Abnormality of cardiovascular system physiology Tubulointerstitial fibrosis Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal endocardium morphology Decreased female libido Decreased lacrimation Increased blood urea nitrogen Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Distal renal tubular acidosis Spontaneous abortion Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Exercise intolerance Bulbous nose Abnormal autonomic nervous system physiology Growth delay Thrombocytopenia Blindness Hydrocephalus Muscle weakness Micrognathia Nystagmus Scoliosis Pneumonia Global developmental delay Abnormal axial skeleton morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Abnormal bone structure Generalized limb muscle atrophy Visual loss Proptosis Abnormal cortical bone morphology Abnormality of the metacarpal bones Abnormal cranial nerve morphology Osteopetrosis Aseptic necrosis Rhinitis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Hypocalcemia Hepatosplenomegaly Bone marrow hypocellularity Pancytopenia Neurodegeneration Short distal phalanx of finger Carious teeth Paralysis Facial palsy Abnormal aortic morphology Generalized hypopigmentation Extramedullary hematopoiesis Peripheral arteriovenous fistula Short neck Motor delay Low-set ears Abnormal facial shape Ectopic ossification in muscle tissue Subcutaneous calcification Upper limb asymmetry Obesity Prominent superficial veins Lack of skin elasticity Lower limb asymmetry Abnormality of the vasculature Dermal atrophy Growth abnormality Abnormality of the foot Malar flattening Pectus excavatum Cutaneous finger syndactyly Molar tooth sign on MRI Multiple lipomas Flat occiput Hoarse voice Palmoplantar keratoderma Craniosynostosis Enlarged joints Multiple epiphyseal dysplasia Epiphyseal dysplasia Clinodactyly Brain atrophy Hip dislocation Finger syndactyly Pectus carinatum Polyhydramnios Agenesis of corpus callosum Inguinal hernia Facial paralysis Fractures of the long bones Fasciculations Nausea Muscle cramps Nephropathy Hematuria Thick vermilion border Thick eyebrow Tachycardia Stage 5 chronic kidney disease Chest pain Vertigo Paresthesia Delayed puberty Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Abdominal distention Sudden cardiac death Prominent nasal bridge Myocardial infarction Bradycardia Hypohidrosis Anorexia Left ventricular hypertrophy Abnormal lung morphology Mitral regurgitation Palpitations Atrial fibrillation Syncope Thick lower lip vermilion Ventricular hypertrophy Nephrotic syndrome Mitral valve prolapse Abnormality of the cardiovascular system Hypotension Urinary incontinence Corneal opacity Cough Hip osteoarthritis Cognitive impairment Diarrhea Vomiting Cardiomyopathy Respiratory insufficiency Fatigue Peripheral neuropathy Cataract Behavioral abnormality Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Cranial hyperostosis Congestive heart failure Midface retrusion Stroke Carcinoma Skin rash Developmental regression Abnormality of the kidney Hypertrophic cardiomyopathy Abnormality of the nervous system Proteinuria Anxiety Coarse facial features Depressivity Dyspnea Hypothyroidism Hyperkeratosis Abdominal pain Posteriorly rotated ears Constipation Arrhythmia Recurrent streptococcus pneumoniae infections



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

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