Hypertelorism, and Tachycardia

Diseases related with Hypertelorism and Tachycardia

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

Top matches:

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Medium match TIMOTHY 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

Other less relevant matches:

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Medium match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Top 5 symptoms//phenotypes associated to Hypertelorism and Tachycardia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Tachycardia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the dentition Cryptorchidism Ventricular septal defect Epicanthus Global developmental delay Ptosis Thin upper lip vermilion Growth delay Generalized hypotonia Seizures Downslanted palpebral fissures Ventricular tachycardia Webbed neck Atrial septal defect Depressed nasal bridge Pectus carinatum Wide nasal bridge High palate Ventricular arrhythmia Toe syndactyly Failure to thrive Prominent forehead Hernia Syndactyly Inguinal hernia Micrognathia Hypoplasia of dental enamel Myopathy Pectus excavatum Strabismus Hyperhidrosis Microcephaly Muscular hypotonia Joint hypermobility Abnormal heart morphology Growth hormone deficiency Pyloric stenosis Pulmonic stenosis Hypertrophic cardiomyopathy Hypoglycemia Postnatal growth retardation Abnormality of cardiovascular system morphology Frontal bossing Recurrent infections Behavioral abnormality Short neck Talipes equinovarus Delayed skeletal maturation Cerebral atrophy Macrocephaly Ventriculomegaly Torsade de pointes Joint laxity Myotonia 2-3 toe syndactyly Prolonged QT interval Clinodactyly Depressivity Malar flattening Brachydactyly Wide nose High, narrow palate Small hand Hypoplasia of the maxilla Cardiac arrest Cognitive impairment Clinodactyly of the 5th finger Syncope

Rare Symptoms - Less than 30% cases

Gastroesophageal reflux Hypothyroidism Patent ductus arteriosus Broad forehead Retrognathia Ectopic anus Constipation Body odor Intellectual disability, moderate Encephalopathy Dolichocephaly Limb muscle weakness Immunodeficiency Abnormal cardiac septum morphology Bulbous nose Short palm Dysphagia Myopia Supraventricular tachycardia Coarse facial features Toe clinodactyly Autistic behavior Decreased body weight Hip dislocation Cutis laxa Cleft palate Abnormality of the fingernails Redundant skin Thick upper lip vermilion Anal atresia Delayed puberty Camptodactyly Mandibular prognathia Laryngomalacia Osteopenia Hand polydactyly Capillary malformation Hypoplastic toenails Heart murmur Round face Perimembranous ventricular septal defect Hyperthyroidism Abnormality of the skeletal system Congestive heart failure Long eyelashes Elevated serum creatine phosphokinase Facial asymmetry Infantile muscular hypotonia Abnormality of dental enamel Sinusitis Coarctation of aorta Eczema Microdontia Short chin Proptosis Aplasia/Hypoplasia of the eyebrow Intrauterine growth retardation Feeding difficulties in infancy Kyphoscoliosis Scapular winging Pes cavus Triangular face Midface retrusion Renal insufficiency Hypertonia Oligodontia Fever Growth abnormality Short metatarsal Flexion contracture Muscle weakness Long philtrum Labial hypoplasia Ventricular extrasystoles Short nose Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Anteverted nares Periodic hypokalemic paresis Short mandibular rami Intellectual disability, mild Clinodactyly of the 5th toe Hydrocephalus Delayed eruption of permanent teeth Periodic paralysis Wide mouth Thick vermilion border Abnormal palate morphology Feeding difficulties Dehydration Sudden cardiac death Lymphedema Shock Tachypnea Deep philtrum Ventricular fibrillation Overgrowth Short metacarpal Hyperkalemia Abnormality of the sternum Rhabdomyolysis Macroglossia Scaphocephaly Small for gestational age Hypogonadism Premature birth Hyperglycemia Renal hypoplasia Osteoporosis Postural instability Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Palpitations Specific learning disability Short phalanx of finger Redundant neck skin Broad philtrum Central hypotonia Large forehead Syringomyelia Abnormality of the testis Achilles tendon contracture Lack of skin elasticity Central apnea Fasting hypoglycemia Hypoplasia of teeth Arnold-Chiari type I malformation Thickened nuchal skin fold Deep palmar crease Obstructive sleep apnea Megalencephaly Large earlobe Woolly hair Fragile nails Microscopic hematuria Progeroid facial appearance Barrel-shaped chest Neonatal hypoglycemia Severe postnatal growth retardation Soft skin Asymmetric septal hypertrophy Abnormal mitral valve morphology Verrucae Epidermal acanthosis Tracheomalacia Sepsis Hyperpigmentation of the skin Atrial fibrillation Thick lower lip vermilion Pneumothorax Apraxia Mitral valve prolapse Hip dysplasia Abnormality of the skin Nevus Full cheeks Tetraplegia Hydrops fetalis Ascites Sleep disturbance Hematuria Astigmatism Joint hyperflexibility Hypermetropia Sparse hair Irritability Apnea Abnormality of the nervous system Wide anterior fontanel Cafe-au-lait spot Generalized hyperpigmentation Pleural effusion Ulnar deviation of finger Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Bilateral cryptorchidism Aortic aneurysm Abnormality of the hair Failure to thrive in infancy Hyperextensible skin Poor suck Relative macrocephaly Arnold-Chiari malformation Hemangioma Abnormal dermatoglyphics Acanthosis nigricans Narrow palate Pointed chin Hoarse voice Concave nail Agenesis of corpus callosum Hyperextensibility of the finger joints Bone marrow hypocellularity Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Flat occiput Hammertoe Chorioretinal coloboma Ectropion Trigonocephaly Schizophrenia Azoospermia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Spina bifida Transposition of the great arteries Aortic valve stenosis Leukodystrophy Short toe Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Pancytopenia Otitis media Decreased antibody level in blood Intestinal malrotation Microcornea Single transverse palmar crease Iris coloboma Natal tooth Wheezing Smooth philtrum Abnormality of the head Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Nasolacrimal duct obstruction Bipolar affective disorder Broad columella Abnormal thrombocyte morphology Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bruising susceptibility Talipes Rhabdomyosarcoma Duodenal ulcer Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Ulnar deviation of the wrist Abnormal pulmonary valve morphology Cardiomyocyte hypertrophy Bladder neoplasm Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Bladder carcinoma Loose anagen hair Narrow chest Microphthalmia Neurological speech impairment Leukemia Finger syndactyly Skin rash Attention deficit hyperactivity disorder Coloboma Craniosynostosis Telecanthus Hydronephrosis Pes planus High forehead Recurrent respiratory infections Hypospadias Thrombocytopenia Optic atrophy Macrocephaly at birth Spasticity Cataract Sensorineural hearing impairment Hearing impairment Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Carcinoma Pulmonary artery stenosis Polyhydramnios Amelogenesis imperfecta Polydactyly Upslanted palpebral fissure Obesity Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Hypothermia Protruding tongue Camptodactyly of finger Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Multiple joint contractures Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Cutaneous syndactyly Hypocalcemia Bradycardia Micropenis Short distal phalanx of finger Pulmonary arterial hypertension Short humerus Hypoplastic scapulae Abnormality of finger Abnormality of the clavicle Sprengel anomaly Short clavicles Inverted nipples Shawl scrotum Absent radius Anal stenosis Oligodactyly Hypoplastic nipples Decreased fertility Postaxial polydactyly External genital hypoplasia Hypoplasia of the ulna Bifid scrotum Hypoplasia of the radius Abnormality of the metacarpal bones Abnormality of the genital system Split hand Interphalangeal joint contracture of finger Hypoplasia of penis Postaxial hand polydactyly Convex nasal ridge Hypodontia Abnormality of the face Cardiomegaly Sparse axillary hair Short digit Stroke Hyperlordosis Myalgia Proximal muscle weakness Rigidity Acidosis Dilatation Kyphosis Aplasia/Hypoplasia of the maxilla Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias First degree atrioventricular block Lactic acidosis Abnormal T-wave Abnormal atrioventricular conduction T-wave inversion Left bundle branch block Short finger Right bundle branch block Reduced tendon reflexes Bilateral single transverse palmar creases Febrile seizures Broad nasal tip Thin vermilion border Dilated cardiomyopathy Muscular dystrophy Metabolic acidosis Tetralogy of Fallot Severe lactic acidosis Esotropia Coma Carious teeth Autism Pneumonia Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Breech presentation Muscle cramps Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Acute kidney injury Myopathic facies Abnormality of the coagulation cascade Lumbar hyperlordosis Decreased fetal movement Hypotension Abnormal bleeding Abnormality of the wrist Sparse lateral eyebrow Hyperkeratosis Blepharophimosis Agenesis of permanent teeth High pitched voice Loss of consciousness Preauricular pit Hypokalemia Bicuspid aortic valve Tetraparesis Short palpebral fissure Delayed eruption of teeth Short foot Inability to walk Paralysis Slender long bone Gait ataxia Respiratory distress Pain Ataxia Facial wrinkling Enlarged naris Minimal subcutaneous fat Abnormality of the forehead Abnormal head movements Cardiogenic shock Abnormality of the nares Premature coronary artery atherosclerosis Long nose Abnormal heart valve morphology Acetabular dysplasia Motor delay Respiratory failure Cerebral cortical atrophy Posteriorly rotated ears Severe short stature Absent speech Edema Cardiomyopathy Respiratory insufficiency Dysarthria Hepatomegaly Hypertension Delayed speech and language development Persistence of primary teeth Neoplasm Nystagmus Hypoinsulinemia Transient neonatal diabetes mellitus Premature atrial contractions Severe failure to thrive Severe intrauterine growth retardation Glucose intolerance Type II diabetes mellitus Diabetes mellitus Prominent U wave Periodic hyperkalemic paralysis Everted upper lip vermilion Unilateral cryptorchidism Wolff-Parkinson-White syndrome Abnormality of temperature regulation Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Hernia of the abdominal wall Absent axillary hair Abnormal external genitalia Aplasia of the ulna Ectopic posterior pituitary Absent hand Abnormality of the radius Laryngeal stenosis Long uvula Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Gastroschisis Breast aplasia Anterior pituitary hypoplasia Abnormality of the humerus Wide nasal base Breast hypoplasia Gonadotropin deficiency Broad face Abnormality of the uterus Short 5th toe Deformed radius Shuffling gait Sparse and thin eyebrow Excessive daytime somnolence Short columella Poor eye contact Delayed cranial suture closure Broad hallux Coarse hair Delayed gross motor development Scrotal hypoplasia Torticollis Microretrognathia Low anterior hairline Stereotypy Axillary apocrine gland hypoplasia Fine hair Narrow forehead Waddling gait Underdeveloped nasal alae Highly arched eyebrow Abnormality of the foot Lethargy Muscular hypotonia of the trunk Neonatal hypotonia Deeply set eye Macrotia Unilateral oligodactyly Abnormality of the curvature of the vertebral column


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