Depressed nasal bridge, and Syncope

Diseases related with Depressed nasal bridge and Syncope

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


Top matches:

High 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

High 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

Medium match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


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

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25


Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Syncope

Symptoms // Phenotype % cases
Wide nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Bradycardia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Syncope. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Hypertelorism Abnormal facial shape Low-set ears Seizures Feeding difficulties Ventricular tachycardia Ventricular arrhythmia Atrioventricular block Sudden cardiac death Scoliosis Muscle weakness Myopathy Muscular hypotonia Cognitive impairment Thin upper lip vermilion Respiratory insufficiency Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Depressivity Hypertrophic cardiomyopathy Intellectual disability Prominent forehead Elevated serum creatine phosphokinase Constipation Sensorineural hearing impairment Cardiomyopathy Full cheeks Joint stiffness Bulbous nose Dyspnea Congestive heart failure Palpitations Thick vermilion border Abnormality of the skeletal system Hepatomegaly

Rare Symptoms - Less than 30% cases


Neonatal hypotonia Abnormal heart valve morphology Difficulty walking Pulmonic stenosis Proximal muscle weakness Small hand Loss of consciousness Tachycardia Skeletal muscle atrophy Gait disturbance Hyperlordosis Hyperlipidemia Flexion contracture Exercise intolerance Hearing impairment Biventricular hypertrophy Prolonged QT interval Mitral regurgitation 2-3 toe syndactyly Dilatation Cardiac arrest Abnormality of lipid metabolism Dilated cardiomyopathy Muscular dystrophy Myocardial infarction Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Atrial arrhythmia Abnormal atrioventricular conduction Limb-girdle muscle weakness Ankle contracture Difficulty climbing stairs Calf muscle hypertrophy Hypoplasia of dental enamel Vertigo Hypertriglyceridemia Fever Scapular winging Myotonia Supraventricular arrhythmia Lipodystrophy EMG: myopathic abnormalities Knee flexion contracture Pain Elbow flexion contracture Brachydactyly Waddling gait High palate Limb-girdle muscular dystrophy Achilles tendon contracture Pectus carinatum Aortic regurgitation Abnormality of the dentition Behavioral abnormality Syndactyly Immunodeficiency Mandibular prognathia Growth delay Pes cavus Hypothyroidism Toe syndactyly Pneumonia Sleep apnea Long philtrum Corneal opacity Hypoglycemia Apnea Dysphagia Short neck Round face Cardiomegaly Coarse facial features Gastroesophageal reflux Anteverted nares Global developmental delay Hypoplasia of the maxilla Cerebral atrophy Impaired vibratory sensation Tricuspid regurgitation Diabetes insipidus Polyuria Orthostatic hypotension Elevated erythrocyte sedimentation rate Anhidrosis Interstitial pulmonary abnormality Emphysema Bundle branch block Impotence Coronary artery atherosclerosis Progressive sensorineural hearing impairment Abnormal ST segment Celiac disease Pulmonary artery stenosis Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Epiphyseal dysplasia Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Subglottic stenosis Heart murmur Failure to thrive Transient ischemic attack Xerostomia Abnormal EKG Cerebellar atrophy Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Glomerulopathy Telangiectasia of the skin Short nose Clubbing Reduced bone mineral density Personality changes Nephropathy Thick lower lip vermilion Nephrotic syndrome Mitral valve prolapse Abnormality of the cardiovascular system Hypotension Urinary incontinence Chest pain Abdominal distention Muscle cramps Hematuria Abnormal lung morphology Thick eyebrow Nausea Stage 5 chronic kidney disease Paresthesia Delayed puberty Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Papule Preeclampsia Subcutaneous nodule Polydipsia Ischemic stroke Glomerulosclerosis Hemiplegia Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Easy fatigability Tinnitus Peripheral arterial stenosis Growth hormone deficiency Corneal dystrophy Anorexia Progressive hearing impairment Abnormal intestine morphology Purpura Aminoaciduria Increased body weight Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Lymphedema Hypohidrosis Reduced ejection fraction Restrictive cardiomyopathy Clubbing of fingers Thickened helices Impaired temperature sensation Obstructive lung disease Atrial septal defect Dolichocephaly Webbed neck Narrow forehead Hyperpigmentation of the skin Poor suck Mild short stature Motor delay Shortened QT interval Intellectual disability, mild Hepatosplenomegaly Deeply set eye Elevated hepatic transaminase Angiokeratoma Reduced sperm motility Peripheral axonal neuropathy Lactic acidosis Cough Increased blood urea nitrogen Hyposthenuria Angiokeratoma corporis diffusum Distal renal tubular acidosis Hyperkeratotic papule Increased carotid artery intimal medial thickness Acroparesthesia Heavy proteinuria Increased glomerular filtration rate Tenesmus Abnormality of the common coagulation pathway Left ventricular septal hypertrophy Abnormal glomerular filtration rate Tortuosity of conjunctival vessels Abnormality of the forehead Cornea verticillata Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Thin vermilion border Distal amyotrophy Angina pectoris Asymmetric septal hypertrophy Chronic pain Abnormal renal physiology Miosis Thickened skin T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology High-frequency hearing impairment Abnormal thrombosis Abnormal myocardium morphology Abnormal common carotid artery morphology Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Hoarse voice Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Tubulointerstitial fibrosis Abnormality of the renal tubule Vascular tortuosity Increased hepatic glycogen content Broad nasal tip Hepatic fibrosis Neurodevelopmental delay Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Increased muscle fatiguability Sinus tachycardia Retinal vascular tortuosity Abnormal cornea morphology Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Dysesthesia Respiratory failure Limb undergrowth Prominent nasal bridge Short phalanx of finger Stroke Perimembranous ventricular septal defect Difficulty running Exertional dyspnea Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Cutaneous syndactyly of toes Torsade de pointes Hypothermia Abnormal echocardiogram Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Multiple joint contractures Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Optic nerve hypoplasia Pelvic girdle muscle weakness Sick sinus syndrome Abnormality of dental enamel Ichthyosis Mildly elevated creatine phosphokinase Toe walking Congenital muscular dystrophy Spinal muscular atrophy Back pain Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Progressive muscle weakness Frequent falls Falls Lower limb muscle weakness Paroxysmal supraventricular tachycardia Limb muscle weakness Facial palsy Rigidity Pectus excavatum Obesity Kyphosis Ptosis Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Cutaneous syndactyly Hypocalcemia Rimmed vacuoles Spastic paraparesis Spondylolisthesis Broad face Mitral stenosis Dysostosis multiplex Spinal cord compression Obstructive sleep apnea Rhinitis Stridor Cerebral palsy Situs inversus totalis Abnormality of peripheral nerve conduction Aortic valve stenosis Limitation of joint mobility Everted lower lip vermilion Wide nose Retinal degeneration Genu valgum Wide mouth Skeletal dysplasia Glaucoma Splenomegaly Constrictive median neuropathy Mucopolysacchariduria Sinusitis Autistic behavior Abnormality of the face Pulmonary arterial hypertension Tetralogy of Fallot Microdontia Esotropia Coma Joint hypermobility Carious teeth Hip dislocation Abnormal cardiac septum morphology Autism Abnormal nerve conduction velocity Abnormal heart morphology Patent ductus arteriosus Encephalopathy Abnormality of cardiovascular system morphology Recurrent infections Ventricular septal defect Myopia Tricuspid atresia Cervical cord compression Urinary glycosaminoglycan excretion Spinal rigidity Sprengel anomaly Skin rash Periodic paralysis Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Scaphocephaly Prominent U wave Hyperthyroidism Slender long bone Long nose Agenesis of permanent teeth Hyperkalemia High pitched voice Preauricular pit Hypokalemia Short metatarsal Growth abnormality Prominent frontal sinuses Cataract Bicuspid aortic valve Abdominal pain Developmental regression Abnormality of the kidney Abnormality of the nervous system Proteinuria Anxiety Arthritis Carcinoma Myalgia Arthralgia Hyperkeratosis Hyperhidrosis Anemia Posteriorly rotated ears Headache Renal insufficiency Diarrhea Vomiting Edema Fatigue Optic atrophy Peripheral neuropathy Hypertension Oligodontia Short chin Heart block Peroneal muscle weakness Microcephaly Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Left anterior fascicular block Micrognathia Peroneal muscle atrophy Shoulder girdle muscle atrophy Increased LDL cholesterol concentration Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Shoulder girdle muscle weakness Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Progressive proximal muscle weakness Ataxia Cleft palate Visual impairment Inability to walk Decreased body weight Tetraparesis Short palpebral fissure Renal hypoplasia Coarctation of aorta Specific learning disability Short metacarpal Triangular face Delayed eruption of teeth Short foot Short palm Respiratory distress Facial asymmetry Broad forehead Blepharophimosis Paralysis Joint laxity Gait ataxia Clinodactyly of the 5th finger Delayed skeletal maturation Clinodactyly Malar flattening Intraventricular hemorrhage



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