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:

Medium match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Medium match STICKLER SYNDROME TYPE 3


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

Medium match CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME


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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Other less relevant matches:

Medium match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


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

Medium match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


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

Medium match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


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

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


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

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


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

Medium match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


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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