Fever, and Tetralogy of Fallot

Diseases related with Fever and Tetralogy of Fallot

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

Top matches:

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

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

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

Other less relevant matches:

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

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

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

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Hypothyroidism

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate

Common Symptoms - More than 50% cases

Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Posteriorly rotated ears Abnormality of the kidney Submucous cleft hard palate Sloping forehead Coarctation of aorta Low-set ears Micrognathia Cognitive impairment Retrognathia Arthritis Bulbous nose Specific learning disability Depressivity Bifid uvula Behavioral abnormality High palate Cryptorchidism Hypoplasia of the corpus callosum Failure to thrive Muscular hypotonia Hypertelorism Clinodactyly of the 5th finger Depressed nasal bridge Anemia Severe short stature Hip dislocation Renal agenesis Duodenal stenosis Perimembranous ventricular septal defect Scoliosis Short palpebral fissure Immunodeficiency Short neck Hydrocephalus Wide nasal bridge Recurrent infections Thrombocytopenia Bicuspid aortic valve Strabismus Umbilical hernia Nystagmus Hypocalcemia Spina bifida Abnormality of the pinna Blepharophimosis Growth delay Epicanthus Microtia Headache Arrhythmia Microphthalmia Hypertrophic cardiomyopathy Hydronephrosis Dilatation Hypospadias Fatigue Abnormal cardiac septum morphology Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Visual impairment Psoriasiform dermatitis Cranial nerve paralysis Obsessive-compulsive behavior Vertigo Unilateral renal agenesis Autoimmune thrombocytopenia Acne Inflammation of the large intestine Autoimmune hemolytic anemia Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Hearing abnormality Meningocele Truncus arteriosus Myelomeningocele Aortic dissection Abdominal pain Edema Purpura Vasculitis Amenorrhea Low posterior hairline Primary amenorrhea Renal dysplasia Pericarditis Meningitis Recurrent pharyngitis Hematuria Rheumatoid arthritis Glossitis Proteinuria Arthralgia Arnold-Chiari malformation Schizophrenia Nasal speech Cholelithiasis Arteritis Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the foot Aplasia of the uterus Oligohydramnios Alopecia Weight loss Hypogonadism Proptosis Small for gestational age Renal insufficiency Sudden cardiac death Congestive heart failure Prominent nose Hypsarrhythmia Abnormality of the skeletal system Short thumb Sparse and thin eyebrow Bilateral single transverse palmar creases Optic atrophy Diabetes insipidus Multiple joint contractures Hydroureter Prominent occiput Long nose Anteverted nares Intrauterine growth retardation Graves disease Right aortic arch with mirror image branching Interrupted aortic arch Ataxia Right aortic arch Impaired T cell function Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Arteria lusoria Abnormality of the dentition Irritability Sacral meningocele Neoplasm Toe syndactyly Flexion contracture Hypertonia Narrow mouth Elevated erythrocyte sedimentation rate Astigmatism Polymicrogyria Sensorineural hearing impairment Dolichocephaly Abnormality of the urinary system Esotropia Abnormality of the genital system Ventriculomegaly Delayed speech and language development Telecanthus Cataract Agenesis of corpus callosum Syndactyly Absent speech Widely spaced teeth Vesicoureteral reflux Aganglionic megacolon Short philtrum External ear malformation Cutaneous syndactyly Finger syndactyly Iris coloboma Frontal bossing Absence seizures Anxiety Intellectual disability, severe Obesity Short nose Hemolytic anemia Diarrhea Fine hair Sparse scalp hair Anal atresia Open mouth Autoimmunity Constipation Pulmonic stenosis Downslanted palpebral fissures Ectopic kidney Conductive hearing impairment Chorea Inguinal hernia Mitral atresia High forehead Abnormality of the left ventricular outflow tract Thoracic aorta calcification Bicuspid pulmonary valve Mandibular prognathia Thoracic aortic aneurysm Cystic medial necrosis Hypoplastic aortic arch Ascending aortic dissection Aortic arch aneurysm Aortic valve calcification Asymmetric septal hypertrophy Mitral stenosis Macrotia Double outlet right ventricle Hypoplastic left heart Heart murmur Aortic aneurysm Cerebral cortical atrophy Underdeveloped nasal alae Jaundice Decreased liver function Abnormal heart valve morphology Interstitial pulmonary abnormality Coronary artery atherosclerosis Leukocytosis Hyponatremia Scaling skin Hypoalbuminemia Ischemic stroke Conjunctivitis Cholestasis Respiratory tract infection Mitral regurgitation Myocardial infarction Hepatitis Aortic valve stenosis Migraine Pectus excavatum Lymphadenopathy Nausea and vomiting Skin rash Erythema Aortic regurgitation Deficient excision of UV-induced pyrimidine dimers in DNA Cardiomyopathy Abnormality of blood and blood-forming tissues Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Abnormality of femur morphology Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Bicornuate uterus Acute monocytic leukemia Hypertension Decreased fertility in males Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Aortic root aneurysm Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Clubbing of toes Abnormality of the hypothalamus-pituitary axis Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Acute kidney injury Synovitis Tubulointerstitial nephritis Abnormality of dental enamel Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Prolonged QT interval 2-3 toe syndactyly Ventricular fibrillation Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Ventricular tachycardia Cardiac arrest Torsade de pointes Bradycardia Sinusitis Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Cardiomegaly Microdontia Round face Syncope Hypoplasia of the maxilla Coma Joint hypermobility Carious teeth Hypothermia Cutaneous syndactyly of toes Hypoglycemia Triangular face Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Bladder diverticulum Hypoplasia of teeth Abnormality of the antihelix Stenosis of the external auditory canal Atrioventricular canal defect Adducted thumb Scrotal hypoplasia Interphalangeal joint contracture of finger Thin vermilion border Biventricular hypertrophy Smooth philtrum Joint hyperflexibility Feeding difficulties in infancy Joint laxity Polyhydramnios Recurrent respiratory infections Long philtrum Feeding difficulties Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Autistic behavior Thin upper lip vermilion Myocarditis Coronary artery aneurysm Myalgia Hyperhidrosis Visual loss Blindness Peripheral neuropathy Muscle weakness Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Abnormality of nail color Cervical lymphadenopathy Stroke CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Abnormal oral mucosa morphology Cholecystitis Ascending tubular aorta aneurysm Azoospermia Cheilitis Elevated C-reactive protein level Inflammatory abnormality of the eye Vomiting Abnormal myocardium morphology Allergy Joint stiffness Cough Gastroesophageal reflux Amaurosis fugax Autism Prominent forehead Pneumonia Encephalopathy Pain Myopathy Dysphagia Myopia Jaw claudication Retinal arteritis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Mediastinal lymphadenopathy Paresthesia Abnormality of the pleura Abnormal thrombocyte morphology Arterial thrombosis Cerebral ischemia Gangrene Visual field defect Ophthalmoparesis Skin ulcer Diplopia Anorexia Epistaxis Optic disc pallor Motor delay Hepatic failure Deeply set eye Neutropenia Leukopenia Pyloric stenosis Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Amblyopia Broad thumb Abnormality of the genitourinary system High, narrow palate Poor suck Generalized tonic-clonic seizures Abnormality of the middle ear Sparse eyebrow Attention deficit hyperactivity disorder Craniosynostosis Cleft lip Aplasia/Hypoplasia of the cerebellum Bifid scrotum Cupped ear Rocker bottom foot Hallux valgus Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Supernumerary nipple Drowsiness Perisylvian polymicrogyria Abnormality of the thymus Perineal fistula Pointed chin Rigidity Skeletal dysplasia Osteopenia Dyspnea Recurrent otitis media Micropenis Hyperkeratosis Respiratory failure Glaucoma Polydactyly Osteoporosis Cerebellar hypoplasia Postnatal microcephaly Delayed skeletal maturation Vascular tortuosity Cerebral atrophy Malar flattening Respiratory insufficiency Brachydactyly Aplasia/Hypoplasia of the corpus callosum Spasticity Drooling Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Congenital conductive hearing impairment Vascular ring Muscular hypotonia of the trunk Dysdiadochokinesis Abnormal eye morphology Axonal loss Abnormal morphology of the hippocampus Basal ganglia calcification Abnormality of the ear Myopathic facies Large basal ganglia Hypoplasia of the brainstem Pulmonary artery sling Aplasia/Hypoplasia of the cerebral white matter Apathy Cerebellar atrophy Hernia Generalized muscle hypertrophy Abnormality of the hand Dementia Hyperactivity Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Aggressive behavior Mental deterioration Hallucinations Congenital cataract Psychosis Peripheral demyelination Dysmetria Anal stenosis Uplifted earlobe Central nervous system degeneration Bruxism Pulmonary artery stenosis Psychotic episodes Abnormal eyebrow morphology Velopharyngeal insufficiency Giant platelets Low hanging columella Paranoia Chronic constipation Misalignment of teeth Tracheal stenosis Mood swings Platybasia Abnormality of the gastrointestinal tract Large earlobe Atypical absence seizures Broad hallux phalanx Broad columella Esodeviation Pulmonary artery atresia Abnormality of the endocrine system Echolalia Prominent nasal tip Broad eyebrow Pierre-Robin sequence Delusions Subglottic stenosis Deep plantar creases Happy demeanor Abnormality of the nervous system Apnea Type I diabetes mellitus Large iliac wings Bifid first metacarpal Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Aplasia/hypoplasia of the femur Cleft upper lip Small anterior fontanelle Hypoplasia of the frontal lobes Abnormality of the intervertebral disk Abnormally ossified vertebrae Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Broad distal phalanx of finger Abnormality of the upper urinary tract Thin eyebrow Colpocephaly Profound global developmental delay Falls Hepatomegaly 11 pairs of ribs Abnormality of skin pigmentation Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Choanal atresia Pancytopenia Lymphoma Hypopigmentation of the skin Bruising susceptibility Facial asymmetry Hyperreflexia Coloboma Leukemia Abnormality of the liver Camptodactyly of finger Abnormality of the eye Pectus carinatum Carcinoma Pes planus Diabetes mellitus Upslanted palpebral fissure Neurological speech impairment Abnormality of the cerebral white matter Respiratory distress Agenesis of cerebellar vermis Abnormal cortical gyration Sparse hair Febrile seizures Knee flexion contracture Muscle stiffness Elbow flexion contracture Otitis media Bowing of the long bones Heterotopia Pachygyria Abnormality of the metaphysis Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Renal hypoplasia Status epilepticus Focal-onset seizure Limb undergrowth Sparse eyelashes Short metacarpal Dehydration Premature birth Delayed myelination Renal cyst Single transverse palmar crease Thick vermilion border Short palm Dry skin Micromelia Hypotrichosis Platyspondyly Corneal opacity Short chin Lissencephaly Hypoplastic ilia Disproportionate short stature Short femur Long foot Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Thickened nuchal skin fold Arachnoid cyst Severe intrauterine growth retardation Epileptic spasms Hip contracture Short humerus Osteomalacia Broad palm Prolonged neonatal jaundice Sacral dimple Partial agenesis of the corpus callosum Cortical gyral simplification Femoral bowing Everted lower lip vermilion Tapered finger Delayed eruption of teeth Abdominal distention Large hands Rickets Elbow dislocation Preaxial polydactyly Brain atrophy Abnormality of the metacarpal bones Abnormality of the cheek


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