Abnormal facial shape, and Syncope

Diseases related with Abnormal facial shape and Syncope

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


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Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

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

Low match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match ANDERSEN-TAWIL SYNDROME


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

Low match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Low 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

Low match LEOPARD SYNDROME 1; LPRD1


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

Low 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 GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Syncope

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ventricular tachycardia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Syncope. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Ventricular arrhythmia Depressivity Congestive heart failure Mitral regurgitation Abnormality of the skeletal system Thin upper lip vermilion Low-set ears Cleft palate Atrioventricular block Sudden cardiac death Global developmental delay Cardiac arrest 2-3 toe syndactyly Aortic regurgitation Corneal opacity Prolonged QT interval Pain Broad forehead Thick vermilion border Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Kyphosis Clinodactyly Pectus excavatum Generalized hypotonia Dilatation Behavioral abnormality Dysphagia Brachydactyly Motor delay Intellectual disability Tachycardia Microcephaly Micrognathia Fatigue High palate Mandibular prognathia Sensorineural hearing impairment Hypoplasia of the maxilla Triangular face Bulbous nose Toe syndactyly Biventricular hypertrophy Fever Bundle branch block Respiratory distress Cognitive impairment Palpitations Ventricular septal defect Short phalanx of finger Hypoplasia of dental enamel Scapular winging Syndactyly

Rare Symptoms - Less than 30% cases


Small hand Interstitial pulmonary abnormality Ptosis Muscular hypotonia Dolichocephaly Growth delay Joint laxity Short palm Periodic hypokalemic paresis Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Growth abnormality Short mandibular rami Clinodactyly of the 5th toe Delayed eruption of permanent teeth Periodic paralysis Short metacarpal Torsade de pointes Specific learning disability T-wave inversion Oligodontia Short metatarsal Myotonia Pectus carinatum Flexion contracture Abnormal heart valve morphology Pulmonic stenosis Delayed puberty Chest pain Myocardial infarction Abnormal mitral valve morphology Abnormal aortic valve morphology Ataxia Delayed skeletal maturation Decreased body weight Loss of consciousness Anemia Posteriorly rotated ears Edema Vomiting Diarrhea Abdominal pain Dyspnea Developmental regression Cough Nausea Heart murmur Anorexia Purpura Hyperkeratosis Cardiomyopathy Midface retrusion Abnormality of cardiovascular system morphology Kyphoscoliosis Neonatal hypotonia Clubbing Joint hypermobility Overgrowth Mitral valve prolapse Patent foramen ovale Retrognathia Aortic root aneurysm Wide nasal bridge Abnormality of the dentition Encephalopathy Respiratory insufficiency Abnormal heart morphology Constipation Hypothyroidism Gastroesophageal reflux Hypoglycemia Pulmonary arterial hypertension Bradycardia Hypocalcemia Hearing impairment Strabismus Hypertension Celiac disease Angina pectoris Clinodactyly of the 5th finger Hepatomegaly Left bundle branch block Splenomegaly Pes planus Left ventricular hypertrophy Short neck Atrial fibrillation Aortic valve stenosis Restrictive cardiomyopathy Recurrent infections Thick eyebrow Abnormal myocardium morphology Patent ductus arteriosus Downslanted palpebral fissures Epicanthus Delayed speech and language development Depressed nasal bridge Abnormal thrombosis Broad face Spondylolisthesis Facial asymmetry Gait ataxia Abnormality of the hand Malar flattening Coarse facial features Obsessive-compulsive behavior Wide nose Hydrops fetalis Ventricular extrasystoles Exercise intolerance Apnea Right bundle branch block Papule Hematological neoplasm Muscle cramps Abnormal platelet aggregation Nephropathy Cardiac valve calcification Slowed horizontal saccades EEG with temporal sharp waves Decreased beta-glucocerebrosidase protein and activity Laryngeal stridor Erlenmeyer flask deformity of the femurs CSF pleocytosis Orthopnea Peripheral neuropathy Giant cell hepatitis Intestinal bleeding Spontaneous hematomas Subcutaneous hemorrhage Abducens palsy Axial dystonia Abdominal distention Hemophagocytosis Cataract Hematuria Optic atrophy Nausea and vomiting Stroke Pruritus Skin rash Abnormality of the kidney Abnormality of the nervous system Proteinuria Anxiety Abnormality of the cerebral white matter Malabsorption Abnormal pattern of respiration Renal insufficiency Arthritis Paresthesia Carcinoma Vertigo Stage 5 chronic kidney disease Myalgia Arthralgia Prominent nasal bridge Hyperhidrosis Headache Eclabion Nonimmune hydrops fetalis Histiocytosis Leukopenia Athetosis Akinesia Hyponatremia Ectropion Abnormality of the thorax Portal hypertension Bilateral ptosis Intracranial hemorrhage Cholelithiasis Poor suck Hyperammonemia Oculomotor apraxia Opisthotonus Osteolysis Hyperbilirubinemia Knee flexion contracture Elbow flexion contracture Aspiration Bone pain Progressive microcephaly Thickened skin Cholestasis Progressive neurologic deterioration Epistaxis Pancytopenia Menorrhagia Abnormality of coagulation Generalized osteosclerosis Hypomagnesemia Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypoxemia Abnormality of the larynx Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Hypotension Slow saccadic eye movements Trismus Bulbar signs Fetal akinesia sequence Petechiae Aspiration pneumonia Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Exertional dyspnea Hypokinesia Urinary incontinence Lymphedema Abnormality of the cardiovascular system Microalbuminuria Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Primary hypothyroidism Conjunctival telangiectasia Increased blood urea nitrogen Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis Gastrointestinal dysmotility Periorbital fullness Asymmetric septal hypertrophy High-frequency hearing impairment Abnormality of the nose Distal renal tubular acidosis Reduced sperm motility Chronic fatigue Abnormality of glycosphingolipid metabolism Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Impaired renal concentrating ability Angiokeratoma Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Abnormality of femur morphology Myocardial fibrosis Nephrotic syndrome Ischemic stroke Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Personality changes Polydipsia Glomerulosclerosis Hemiplegia Prominent supraorbital ridges Chronic kidney disease Easy fatigability Tinnitus Reduced bone mineral density Corneal dystrophy Anhidrosis Progressive hearing impairment Abnormal intestine morphology Hyperlipidemia Aminoaciduria Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Cyanosis Hypohidrosis Subcutaneous nodule Abnormal lung morphology Thick lower lip vermilion Ventricular hypertrophy Polyuria Emphysema Sinus bradycardia Edema of the lower limbs Achalasia Chronic obstructive pulmonary disease Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Renal tubular dysfunction Impotence Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Wheezing Renal tubular acidosis Glycosuria Glomerulopathy Telangiectasia of the skin Orthostatic hypotension Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Decreased fetal movement Hypoplastic left heart Abnormality of the skin Hiatus hernia Myopathy Myopia Dysostosis multiplex Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Graves disease Cleft soft palate Aortic dissection Soft skin Immunodeficiency Mitral stenosis Long palpebral fissure Abnormality of the sternum Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Ectopia lentis Joint contracture of the hand Exotropia Tall stature Osteoarthritis Blue sclerae Spinal cord compression Obstructive sleep apnea Abnormality of peripheral nerve conduction Esotropia Ventricular fibrillation Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Everted lower lip vermilion Full cheeks Sinusitis Abnormality of the face Limitation of joint mobility Cardiomegaly Tetralogy of Fallot Microdontia Round face Rhinitis Coma Carious teeth Hip dislocation Autistic behavior Situs inversus totalis Spastic paraparesis Cerebral palsy Autism Prominent forehead Pneumonia Sleep apnea Stridor Constrictive median neuropathy Bifid uvula Mixed hearing impairment Dental crowding Abnormal atrioventricular conduction Aggressive behavior Attention deficit hyperactivity disorder Short finger Synophrys Poor speech Short distal phalanx of finger Reduced tendon reflexes Abnormal palate morphology Tapered finger Bilateral single transverse palmar creases Hypodontia Low anterior hairline High forehead Febrile seizures Broad nasal tip Absent radius Abnormality of finger High, narrow palate Mild global developmental delay Obsessive-compulsive trait Thin vermilion border Limb muscle weakness Hyperacusis Aplasia of the 1st metacarpal Dilated cardiomyopathy Abnormal T-wave First degree atrioventricular block Bruising susceptibility Hyporeflexia Mucopolysacchariduria Long face Arachnodactyly Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Cervical cord compression Proptosis Brachycephaly Inguinal hernia Hernia Macrotia Tricuspid atresia Feeding difficulties Talipes equinovarus Hyperreflexia Short nose Aplasia/Hypoplasia of the maxilla Long philtrum Upslanted palpebral fissure Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Hyperactivity Short digit Multiple joint contractures Bronchitis Brain atrophy Long nose Left ventricular noncompaction Intrauterine growth retardation Spasticity Failure to thrive Prominent U wave Periodic hyperkalemic paralysis Toe clinodactyly Persistence of primary teeth Scaphocephaly Hyperthyroidism Abnormal left ventricle morphology Slender long bone Agenesis of permanent teeth Hypertonia Hyperkalemia High pitched voice Preauricular pit Hypokalemia Bicuspid aortic valve Short chin Right ventricular failure Tetraparesis Short palpebral fissure Renal hypoplasia Coarctation of aorta Delayed eruption of teeth Concave nasal ridge Dystonia Inability to walk Irritability Abnormal bleeding Generalized myoclonic seizures Ascites Pulmonary hypoplasia Hepatic failure Cirrhosis Lymphadenopathy Abnormality of eye movement Ophthalmoplegia Lethargy Elevated serum creatine phosphokinase Pallor Feeding difficulties in infancy Thrombocytopenia Pulmonary embolism Elevated hepatic transaminase Rigidity Hepatosplenomegaly Jaundice Umbilical hernia Osteopenia Polyhydramnios Wolff-Parkinson-White syndrome Myoclonus Dementia Recurrent respiratory infections Short foot Blepharophimosis Cutaneous finger syndactyly Cryptorchidism Webbed neck Pes cavus Protruding ear Conductive hearing impairment Micropenis Glaucoma Skeletal dysplasia Alopecia Hypospadias Intellectual disability, mild Joint stiffness Wide mouth Genu valgum Abnormality of the genital system Retinal degeneration Neoplasm Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Cutaneous syndactyly of toes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Depressed nasal ridge Cafe-au-lait spot Paralysis Limited elbow movement Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Muscle weakness Noncompaction cardiomyopathy Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Subvalvular aortic stenosis Spina bifida occulta Abnormality of the fascia Visual impairment Hyposmia Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bilateral cryptorchidism Unilateral renal agenesis Cubitus valgus Pterygium Mutism Cornea verticillata



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Cholestasis, related diseases and genetic alterations Dysarthria and Sparse hair, related diseases and genetic alterations Micrognathia and Joint hypermobility, related diseases and genetic alterations Anemia and Dandy-Walker malformation, related diseases and genetic alterations Muscular hypotonia and Short neck, related diseases and genetic alterations Seizures and Syndactyly, related diseases and genetic alterations

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