Arthritis, and Mitral valve prolapse
Diseases related with Arthritis and Mitral valve prolapse
In the following list you will find some of the most common rare diseases related to Arthritis and Mitral valve prolapse that can help you solving undiagnosed cases.
Top matches:
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type
Related symptoms:
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about STICKLER SYNDROME TYPE 3
Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial|hypertrophic synovitis, congenital familial|pac syndrome|camptodactyly-arthropathy-pericarditis syndrome|arthropathy-camptodactyly syndrome|cacp syndrome|jacobs syndrome|pericarditis-arthropathy-camptodactyly syndrome|cap syn
Related symptoms:
- Pain
- Flexion contracture
- Dyspnea
- Arthritis
- Camptodactyly
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME
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The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome
Related symptoms:
- Neoplasm
- Anemia
- Ventriculomegaly
- Dilatation
- Visual loss
SOURCES:
OMIM
MENDELIAN
More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.
Related symptoms:
- Micrognathia
- Abnormal facial shape
- Cryptorchidism
- Ptosis
- Abnormality of the skeletal system
SOURCES:
OMIM
MENDELIAN
More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2
Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency
Related symptoms:
- Muscle weakness
- Muscular hypotonia
- Pain
- Peripheral neuropathy
- Skeletal muscle atrophy
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly
Related symptoms:
- Short stature
- Generalized hypotonia
- Motor delay
- Hypertension
- Epicanthus
SOURCES:
OMIM
MESH
MENDELIAN
More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).
LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf
Related symptoms:
- Short stature
- Generalized hypotonia
- Scoliosis
- Growth delay
- Hypertelorism
SOURCES:
OMIM
MENDELIAN
More info about LOEYS-DIETZ SYNDROME 5; LDS5
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs
Related symptoms:
- Scoliosis
- Pain
- Ptosis
- Epicanthus
- Fatigue
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE
Top 5 symptoms//phenotypes associated to Arthritis and Mitral valve prolapse
Symptoms // Phenotype |
% cases |
Osteoarthritis |
Common - Between 50% and 80% cases
|
Joint hypermobility |
Common - Between 50% and 80% cases
|
Soft skin |
Uncommon - Between 30% and 50% cases
|
Dilatation |
Uncommon - Between 30% and 50% cases
|
Inguinal hernia |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Arthritis and Mitral valve prolapse. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Pes planus
Hernia
Bruising susceptibility
Hyperextensible skin
Joint laxity
Pain
Arachnodactyly
Arthralgia
Aortic dissection
Mitral regurgitation
Cleft palate
Bifid uvula
Aortic root aneurysm
Osteoporosis
Scoliosis
Abnormality of the foot
Hiatus hernia
Arrhythmia
Retinal detachment
Myopia
Aortic aneurysm
Umbilical hernia
Ptosis
Atrophic scars
Spondylolisthesis
Joint hyperflexibility
Rare Symptoms - Less than 30% cases
Stroke
Scarring
Abnormality of the skeletal system
Sensorineural hearing impairment
Hip dislocation
Kyphoscoliosis
Blue sclerae
Ectopia lentis
Thin skin
Joint dislocation
Motor delay
Arterial dissection
Myalgia
Abnormality of the sternum
Premature rupture of membranes
Fatigue
Muscular hypotonia
Gastrointestinal hemorrhage
Epicanthus
Subarachnoid hemorrhage
Generalized hypotonia
Migraine
Pectus carinatum
High palate
Arterial tortuosity
Pectus excavatum
Midface retrusion
Micrognathia
Abnormal vitreous humor morphology
Arthropathy
Striae distensae
Proptosis
Visual loss
Long philtrum
Aortic regurgitation
Cataract
Hypertelorism
Abnormal joint morphology
Short stature
Poor wound healing
Abdominal distention
Rectal prolapse
Camptodactyly
Flexion contracture
Dural ectasia
Bowel diverticulosis
Myxomatous mitral valve degeneration
Arterial rupture
Irregularly spaced teeth
Low back pain
Dilatation of the cerebral artery
Hyperextensibility at elbow
Subcutaneous spheroids
Hyperextensibility of the knee
Uterine prolapse
Premature birth following premature rupture of fetal membranes
Knee osteoarthritis
Asthma
Molluscoid pseudotumors
Osteochondritis Dissecans
Recurrent urinary tract infections
Fragile skin
Protrusio acetabuli
Periodontitis
Varicose veins
Infantile muscular hypotonia
Generalized joint laxity
Intervertebral disc degeneration
Hypertension
Abdominal aortic aneurysm
Bladder diverticulum
Hyperextensibility of the finger joints
Eczematoid dermatitis
Lop ear
Cigarette-paper scars
Thoracic aortic aneurysm
Inflammatory abnormality of the skin
Narrow maxilla
Hip osteoarthritis
Intellectual disability
Membranous ventricular septal aneurysm
Limitation of joint mobility
Abnormal palate morphology
Osteolysis
Wormian bones
Gingival overgrowth
Subcutaneous nodule
Microdontia
Sleep disturbance
Elbow dislocation
Nausea
Vertigo
Paresthesia
Malabsorption
Nausea and vomiting
Apnea
Decreased nerve conduction velocity
Decreased fertility
Constipation
Venous insufficiency
Cystocele
Tendon rupture
Anorectal anomaly
Abnormality of the gingiva
Abnormality of the menstrual cycle
Ascending tubular aorta aneurysm
Gastrointestinal dysmotility
Keratoconus
Aplasia/Hypoplasia of the abdominal wall musculature
Abnormality of the wrist
Atypical scarring of skin
Acrocyanosis
Gingivitis
Keratoconjunctivitis sicca
Gastroesophageal reflux
Depressivity
Growth delay
Abnormal cardiac septum morphology
Syncope
Long face
Smooth philtrum
Arthrogryposis multiplex congenita
Dolichocephaly
Small for gestational age
Neonatal hypotonia
Tall stature
Retrognathia
Brachycephaly
Hyporeflexia
Talipes equinovarus
Ventricular septal defect
Downslanted palpebral fissures
Overgrowth
Exotropia
Abnormality of the dentition
Cleft soft palate
Vomiting
Increased arm span
Cervical spine instability
Bilateral coxa valga
Ascending aortic dissection
Graves disease
Broad face
Joint contracture of the hand
Long palpebral fissure
Celiac disease
Reduced subcutaneous adipose tissue
Decreased muscle mass
Cerebral hemorrhage
Patent foramen ovale
Atrioventricular block
Slender finger
Adrenal hypoplasia
Disproportionate tall stature
Pericardial constriction
Wrist flexion contracture
Hip pain
Pleuritis
Flexion contracture of toe
Iridocyclitis
Constrictive pericarditis
Serositis
Congenital finger flexion contractures
Coxa magna
Flattened metatarsal heads
Flattened metacarpal heads
Synovial hypertrophy
Digital flexor tenosynovitis
Juvenile rheumatoid arthritis
Generalized morning stiffness
Neoplasm
Anemia
Ventriculomegaly
Abnormality of extrapyramidal motor function
Epistaxis
Hemiparesis
Telangiectasia
Hemangioma
Clubbing
Colon cancer
Iron deficiency anemia
Hematochezia
Synovitis
Uveitis
Cavernous hemangioma
Spondyloepiphyseal dysplasia
Short nose
Skeletal dysplasia
Platyspondyly
Hypoplasia of the maxilla
Abnormality of epiphysis morphology
Abnormality of vertebral epiphysis morphology
Hearing impairment
Depressed nasal bridge
Anteverted nares
Malar flattening
Glaucoma
Retinopathy
Long fingers
Pericarditis
Glossoptosis
Exostoses
Pierre-Robin sequence
Abnormal metacarpal morphology
Dyspnea
Skin rash
Chest pain
Elbow flexion contracture
Coxa vara
Pleural effusion
Cutis marmorata
Pericardial effusion
Exertional dyspnea
Arteriovenous malformation
Hamartomatous polyposis
Back pain
Muscle fiber splitting
Vesicoureteral reflux
Ambiguous genitalia
Spina bifida
Spina bifida occulta
Rheumatoid arthritis
Psoriasiform dermatitis
Unilateral renal agenesis
Adrenal hyperplasia
Proximal amyotrophy
Bicornuate uterus
Precocious atherosclerosis
Increased connective tissue
Arteriosclerosis
Sensory neuropathy
Congenital adrenal hyperplasia
Ambiguous genitalia, female
Premature arteriosclerosis
Quadricuspid aortic valve
Atrial septal defect
Headache
Patent ductus arteriosus
Pulmonic stenosis
Dental malocclusion
Ventricular hypertrophy
Atrial fibrillation
Left ventricular hypertrophy
Bicuspid aortic valve
Single transverse palmar crease
Proximal muscle weakness
Cerebral arteriovenous malformation
Narrow palate
Gastrointestinal carcinoma
Pulmonary arteriovenous malformation
Hepatic arteriovenous malformation
Intrapulmonary shunt
Juvenile gastrointestinal polyposis
Abnormal facial shape
Cryptorchidism
Short neck
Macrotia
Osteopenia
Papule
Webbed neck
Low posterior hairline
Cutis laxa
Skeletal muscle atrophy
Redundant skin
Bilateral ptosis
Hallux valgus
Thoracic scoliosis
Abnormality of the vasculature
Thin eyebrow
Knee dislocation
Squared iliac bones
Shoulder dislocation
Ventral hernia
Bursitis
Muscle weakness
Peripheral neuropathy
Genital hernia
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