Hearing impairment, and Syncope

Diseases related with Hearing impairment and Syncope

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

Top matches:

Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.

Related symptoms:

  • Hearing impairment
  • Syncope
  • Bradycardia
  • Vestibular dysfunction
  • Abnormal atrioventricular conduction


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINOATRIAL NODE DYSFUNCTION AND DEAFNESS

Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.

PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME Is also known as progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain
  • Syncope


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).A form of torsade de pointes in which the first beat has a short coupling interval has been described (OMIM ). Genetic Heterogeneity of Long QT SyndromeThere are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (OMIM ) is caused by mutation in the KCNH2 gene (OMIM ), LQT3 (OMIM ) is caused by mutation in the SCN5A gene (OMIM ), LQT4 (see {600919}) is caused by mutation in the ANK2 gene (OMIM ), LQT5 is caused by mutation in the KCNE1 gene (OMIM ), LQT6 (OMIM ) is caused by mutation in the KCNE2 gene (OMIM ), LQT7 (Andersen cardiodysrhythmic periodic paralysis, {170390}) is caused by mutation in the KCNJ2 gene (OMIM ), LQT8 (Timothy syndrome; {601005}) is caused by mutation in the CACNA1C gene (OMIM ), LQT9 (OMIM ) is caused by mutation in the CAV3 gene (OMIM ), LQT10 (OMIM ) is caused by mutation in the SCN4B gene (OMIM ), LQT11 (OMIM ) is caused by mutation in the AKAP9 gene (OMIM ), LQT12 (OMIM ) is caused by mutation in the SNTA1 gene (OMIM ), LQT13 (OMIM ) is caused by mutation in the KCNJ5 gene (OMIM ), LQT14 (OMIM ) is caused by mutation in the CALM1 gene (OMIM ), and LQT15 (OMIM ) is caused by mutation in the CALM2 gene (OMIM ).Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).

LONG QT SYNDROME 1; LQT1 Is also known as romano-ward syndrome|ventricular fibrillation with prolonged qt interval|rws|wrs|ward-romano syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Depressivity
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 1; LQT1

Other less relevant matches:

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 Is also known as prolonged qt interval in ekg and sudden death|deafness, congenital, and functional heart disease|surdo-cardiac syndrome|cardioauditory syndrome of jervell and lange-nielsen

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Low match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

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

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Syncope

Symptoms // Phenotype % cases
Ventricular arrhythmia Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Prolonged QT interval Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Syncope. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventricular tachycardia Depressivity Ventricular fibrillation Torsade de pointes Sudden cardiac death Cardiac arrest Cardiomyopathy T-wave alternans Congenital sensorineural hearing impairment Pain Congestive heart failure Myopathy Fatigue Bradycardia Chest pain Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases

Abnormality of cardiovascular system morphology Mandibular prognathia Ptosis Dilatation Elevated serum creatine phosphokinase Dilated cardiomyopathy EMG abnormality Atrioventricular block Depressed nasal bridge Abnormality of the skeletal system Cardiomegaly Short neck Third degree atrioventricular block Aortic valve stenosis Encephalopathy Intellectual disability Global developmental delay Generalized hypotonia Hypertelorism Muscular hypotonia Low-set ears Cognitive impairment Hypothyroidism Bundle branch block Heart block Abnormal heart morphology Dysphagia Short stature Tachycardia Paralysis Palpitations Left ventricular hypertrophy Dyspnea Vestibular dysfunction Epileptic spasms Atrioventricular dissociation Spina bifida occulta Mutism Pterygium Cubitus valgus Unilateral renal agenesis Bilateral cryptorchidism Scapular winging Adrenocorticotropin deficient adrenal insufficiency Severe hearing impairment Multiple cafe-au-lait spots Renal tubular acidosis Folate deficiency Missing ribs Abnormality of the genital system Angina pectoris Hyposmia Abnormal mitral valve morphology Abnormal aortic valve morphology Subvalvular aortic stenosis Limited elbow movement Renal Fanconi syndrome Multiple lentigines Parietal bossing First degree atrioventricular block Cafe-au-lait spot Depressed nasal ridge Mitral regurgitation Hyperkeratosis Strabismus Cleft palate Cryptorchidism Delayed speech and language development Hypertension Epicanthus Respiratory insufficiency Intellectual disability, mild Kyphosis Hypospadias Pectus excavatum Alopecia Posteriorly rotated ears Micropenis Delayed menarche Progressive intervertebral space narrowing Kyphoscoliosis Neonatal hypotonia Conductive hearing impairment Protruding ear Pectus carinatum Pulmonic stenosis Delayed puberty Second degree atrioventricular block Triangular face Webbed neck Overgrowth Myocardial infarction Sideroblastic anemia Titubation Muscle fiber atrophy Leukoencephalopathy Sensory neuropathy Muscle cramps Gait imbalance Growth hormone deficiency Memory impairment Pigmentary retinopathy Severe lactic acidosis Hypomagnesemia Cerebral calcification Hyperaldosteronism Ventricular hypertrophy Abnormality of retinal pigmentation External ophthalmoplegia Reduced tendon reflexes Vertigo Ragged-red muscle fibers Incoordination Nasal speech Bilateral ptosis Abnormality of mitochondrial metabolism Mitochondrial myopathy Ophthalmoparesis Increased CSF protein Hemiplegia/hemiparesis Adrenal insufficiency Hypoparathyroidism Progressive external ophthalmoplegia Exocrine pancreatic insufficiency Primary adrenal insufficiency Lactic acidosis Limb muscle weakness Basal ganglia calcification Blindness Abnormality of the mitochondrion Anterior hypopituitarism Hypoplasia of the ovary Numerous nevi Coronary artery aneurysm Aplasia of the ovary Microcephaly Ataxia Nystagmus Muscle weakness Peripheral neuropathy Skeletal muscle atrophy Optic atrophy Hyporeflexia Ophthalmoplegia Delayed skeletal maturation Cerebellar hypoplasia Rod-cone dystrophy Severe short stature Dementia Myoclonus Stroke-like episode Hypogonadism Neoplasm Reduced visual acuity Acidosis Retinopathy Nyctalopia Muscular dystrophy Diabetes mellitus Pulmonary arterial hypertension Growth delay Corneal opacity Abnormality of neutrophils Impaired myocardial contractility Diffuse palmoplantar hyperkeratosis Visual impairment Hepatomegaly Splenomegaly Pes cavus Glaucoma Skeletal dysplasia Coarse facial features Apnea Joint stiffness Wide mouth Genu valgum Severe sensorineural hearing impairment Retinal degeneration Wide nose Thick vermilion border Everted lower lip vermilion Full cheeks Limitation of joint mobility Situs inversus totalis Spastic paraparesis Aortic regurgitation Cerebral palsy Sleep apnea Stridor Rhinitis Abnormal left ventricle morphology Thromboembolism Spinal cord compression Delayed gross motor development Abnormal atrioventricular conduction Abnormal electrophysiology of sinoatrial node origin Left bundle branch block Postural instability Abnormality of the ear Periodic paralysis Atrial arrhythmia Abnormal T-wave Prolonged QTc interval Polymorphic ventricular tachycardia Diarrhea Bilateral sensorineural hearing impairment Abnormal intestine morphology Iron deficiency anemia Lipoatrophy T-wave inversion Anemia Generalized tonic-clonic seizures Confusion Loss of consciousness Subarachnoid hemorrhage Feeding difficulties Ventriculomegaly Edema Stroke Cough Palmoplantar keratoderma Tachypnea Palmoplantar hyperkeratosis Obstructive sleep apnea Dysostosis multiplex Scoliosis Obsessive-compulsive behavior Hypoplasia of the maxilla Round face Esotropia Microdontia Tetralogy of Fallot Abnormality of the face Hypoplasia of dental enamel Sinusitis Hypocalcemia Abnormality of dental enamel Cutaneous syndactyly Optic nerve hypoplasia Patent foramen ovale 2-3 toe syndactyly Joint hypermobility Multiple joint contractures Mixed hearing impairment Bronchitis Cutaneous finger syndactyly Protruding tongue Amelogenesis imperfecta Hypothermia Perimembranous ventricular septal defect Cutaneous syndactyly of toes Biventricular hypertrophy Frontal balding Abnormality of dental color Abnormal direction of ventricular apex Coma Toe syndactyly Mitral stenosis Abnormality of the dentition Broad face Spondylolisthesis Constrictive median neuropathy Abnormality of peripheral nerve conduction Mucopolysacchariduria Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Cervical cord compression Tricuspid atresia Abnormal facial shape Wide nasal bridge Myopia Ventricular septal defect Behavioral abnormality Carious teeth Syndactyly Immunodeficiency Recurrent infections Patent ductus arteriosus Constipation Pneumonia Prominent forehead Autism Gastroesophageal reflux Thin upper lip vermilion Hypoglycemia Autistic behavior Abnormal cardiac septum morphology Hip dislocation Low CSF 5-methyltetrahydrofolate


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