Arthritis, and Tetralogy of Fallot

Diseases related with Arthritis and Tetralogy of Fallot

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


Top matches:

Low match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

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 DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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Other less relevant matches:

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low 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

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Top 5 symptoms//phenotypes associated to Arthritis and Tetralogy of Fallot

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High palate Hypertelorism Hearing impairment Retrognathia Headache Fever Conductive hearing impairment Short stature Ventricular septal defect Umbilical hernia Bicuspid aortic valve Inguinal hernia Osteoarthritis Seborrheic dermatitis Hydrocephalus Acne Spina bifida Abnormal heart morphology Micrognathia Meningocele Global developmental delay Intellectual disability Arthralgia Immunodeficiency Truncus arteriosus Schizophrenia Abnormality of cardiovascular system morphology Nasal speech Hypoparathyroidism Impaired T cell function Cholelithiasis Behavioral abnormality Bipolar affective disorder Posterior embryotoxon Seizures Short neck Sacral meningocele Specific learning disability Microcephaly Abnormal facial shape Thrombocytopenia Obesity Hernia Abnormality of the skeletal system Bulbous nose Anal atresia Disproportionate tall stature Autoimmunity Mitral regurgitation Meningitis Mitral valve prolapse Hypocalcemia Dilatation Pain Pes planus Purpura Strabismus Bifid uvula Hypothyroidism Pulmonic stenosis Posteriorly rotated ears Arnold-Chiari malformation Depressivity Hypospadias Vesicoureteral reflux Arachnodactyly Talipes equinovarus

Rare Symptoms - Less than 30% cases


Vitiligo Myelomeningocele Low posterior hairline Inflammation of the large intestine Autoimmune thrombocytopenia Primary amenorrhea Renal dysplasia Autoimmune hemolytic anemia Unilateral renal agenesis Psoriasiform dermatitis Holoprosencephaly Rheumatoid arthritis Osteoporosis Juvenile rheumatoid arthritis Neoplasm Aplasia of the uterus Multiple suture craniosynostosis Constipation Myalgia Asthma Joint stiffness Hyperhidrosis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormality of the skull Abnormal thrombocyte morphology Arteritis Glossitis Ascending tubular aorta aneurysm Recurrent pharyngitis Downslanted palpebral fissures Fatigue Edema Arrhythmia Abdominal pain Aortic root aneurysm Erythema Skin rash Pericarditis Hematuria Migraine Elevated erythrocyte sedimentation rate Vasculitis Malar flattening Optic atrophy Graves disease Microphthalmia Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Right aortic arch Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Low-set ears Flexion contracture Narrow mouth Aortic dissection Telecanthus Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Joint swelling Back pain Exotropia Tetany Large fontanelles Hypoplasia of the thymus Eczema Abdominal aortic aneurysm Amenorrhea Myopathic facies Renal agenesis Aortic aneurysm Cataract Kyphoscoliosis Muscular hypotonia Skeletal dysplasia Hydronephrosis Respiratory tract infection Joint laxity Camptodactyly Bruising susceptibility Facial asymmetry Joint hyperflexibility Cognitive impairment Abnormal cortical bone morphology Osteolytic defects of the phalanges of the hand Dilatation of the cerebral artery Soft skin Spondylolisthesis Thoracic aortic aneurysm Arterial tortuosity Dural ectasia Intestinal malrotation Renal hypoplasia Omphalocele Proptosis Abnormality of the sternum Anemia Recurrent infections Blepharophimosis Frontal bossing Pectus excavatum Hemolytic anemia Failure to thrive Anxiety Abnormality of the pinna Chorea Delayed speech and language development Hypoplasia of the corpus callosum Atrophic scars Cough Stroke Hallux valgus Weight loss Nystagmus Alopecia Leukocytosis Visual loss Renal insufficiency Muscle weakness Blindness Visual impairment Peripheral neuropathy Bicuspid pulmonary valve Vertigo Paresthesia Hyponatremia Gangrene Blue sclerae Joint contracture of the hand Visual field defect Diabetes insipidus Ophthalmoparesis Skin ulcer Finger clinodactyly Ectopia lentis Diplopia Anorexia Joint dislocation Epistaxis Optic disc pallor Microretrognathia Sudden cardiac death Hepatic failure Ataxia Strawberry tongue Coronary artery atherosclerosis Long toe Synovitis Pulmonary artery aneurysm Abnormal heart valve morphology Cheilitis Sagittal craniosynostosis Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormal myocardium morphology Cholecystitis Cystic medial necrosis Allergy Myocarditis Ascending aortic dissection Acute kidney injury Dermal translucency Unilateral ptosis Long thorax High anterior hairline Abnormal oral mucosa morphology Abnormal gallbladder morphology Arthralgia/arthritis Aseptic leukocyturia Tubulointerstitial nephritis Rhinitis Generalized arterial tortuosity Abnormal emotion/affect behavior Scaphocephaly Pyuria Interstitial pulmonary abnormality Narrow nose Abnormality of nail color Coronary artery aneurysm Cervical lymphadenopathy CSF pleocytosis Descending thoracic aorta aneurysm Arterial thrombosis Conjunctival hyperemia Abnormal pericardium morphology Cerebral ischemia Broad forehead Abnormality of the pleura Exstrophy Rectal fistula Hip pain Eczematoid dermatitis Periostosis Subperiosteal bone formation Sacral lipoma Sirenomelia Dermoid cyst Rectal abscess Cloacal exstrophy Absence of the sacrum Dental malocclusion Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Aortic regurgitation Clubbing of toes Slender finger Abnormal joint morphology Wide cranial sutures Hemisacrum Cyclopia Growth hormone excess Redundant skin Palmoplantar hyperkeratosis Clubbing Wormian bones Thickened skin Thickened calvaria Limitation of joint mobility Coarse facial features Arthropathy Heart block Anterior sacral meningocele Flushing Osteopenia Clubbing of fingers Long clavicles Delayed skeletal maturation Growth delay Hydromyelia Hypoalbuminemia Presacral teratoma Striae distensae Mottled pigmentation Mediastinal lymphadenopathy Dolichocephaly Clinodactyly Abnormality of the genitourinary system Spina bifida occulta Type I diabetes mellitus Clinodactyly of the 5th finger Situs inversus totalis Pectus carinatum Patent foramen ovale Thin vermilion border Hyperostosis Urinary incontinence Talipes Diabetes mellitus Jaw claudication Retinal arteritis Gastrointestinal infarctions Impaired mastication Postaxial hand polydactyly Amaurosis fugax Tracheoesophageal fistula Transposition of the great arteries Lower limb undergrowth Osteochondritis Dissecans Subarachnoid hemorrhage Spinal deformities Bladder exstrophy Teratoma Deviation of finger Urinary retention Abnormality of the knee Neurogenic bladder Low back pain Hip osteoarthritis Myopia Abnormality of tibia morphology Protrusio acetabuli Chronic constipation Maternal diabetes Intervertebral disc degeneration Uterine prolapse Knee osteoarthritis Lipoma Syringomyelia Scaling skin Autism Ischemic stroke Generalized hypotonia Dysmetria Congenital cataract Mental deterioration Aggressive behavior Hyperactivity Dementia Absent speech Cerebellar atrophy Intellectual disability, severe Anterior concavity of thoracic vertebrae Peripheral demyelination Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Megacystis Urethral atresia Long neck Prune belly Underdeveloped nasal alae Psychosis Tricuspid valve prolapse Submucous cleft hard palate Paranoia Mood swings Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Axonal loss Open mouth Basal ganglia calcification Abnormality of the ear Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Abnormality of the hand Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Ureteral stenosis Sclerosis of skull base Velopharyngeal insufficiency Narrow chest Pulmonary arterial hypertension Abnormality of the ribs Oligohydramnios Growth hormone deficiency Nevus Full cheeks Delayed eruption of teeth Short distal phalanx of finger Genu valgum Hip dislocation Abnormality of the metaphysis Abnormal cardiac septum morphology High forehead Macrotia Prominent forehead Recurrent respiratory infections Pneumonia Respiratory insufficiency Gait disturbance Hypertension Motor delay Recurrent otitis media Bowing of the long bones Complete atrioventricular canal defect Limited elbow extension Craniofacial hyperostosis Small face Hypoplastic pelvis Hypoplastic scapulae Misalignment of teeth Cone-shaped epiphyses of the phalanges of the hand Short clavicles Short humerus Atrioventricular canal defect Tibial bowing Long fingers Wide anterior fontanel Short thorax Delayed cranial suture closure Thoracic hypoplasia Ectopic kidney Flared metaphysis Melanocytic nevus Prominent supraorbital ridges Coarse hair Coxa valga Hoarse voice Giant platelets Psychotic episodes Cranial nerve paralysis Foot polydactyly Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Hyperthyroidism Abnormal aortic valve morphology Bowel incontinence Dysphasia Chronic otitis media Overfolded helix Abnormality of the thorax Hand polydactyly Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Corneal neovascularization Abnormality of the pharynx Choanal atresia Congestive heart failure Conjunctivitis Decreased liver function Cholestasis Myocardial infarction Hepatitis Lymphadenopathy Nausea and vomiting Irritability Proteinuria Jaundice Diarrhea Small earlobe Sensorineural hearing impairment Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Aganglionic megacolon Gastrointestinal hemorrhage Central nervous system degeneration Polymicrogyria Femoral hernia Anterior segment developmental abnormality Sclerocornea Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Iris coloboma Astigmatism Perisylvian polymicrogyria Generalized tonic-clonic seizures Microtia Abnormality of the kidney Cleft lip Hypertonia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Alcoholism Abnormality of the middle ear Long face Abnormality of the dentition Carious teeth Prominent nasal bridge Feeding difficulties in infancy Gastroesophageal reflux Polyhydramnios Glaucoma Upslanted palpebral fissure Long philtrum Splenomegaly Intellectual disability, mild Intrauterine growth retardation Abnormality of the thymus Wide nasal bridge Epicanthus Cryptorchidism Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Biconvex vertebral bodies



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

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