Fever, and Pulmonic stenosis

Diseases related with Fever and Pulmonic stenosis

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

Top matches:

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

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

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

Other less relevant matches:

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

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Pulmonic stenosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Pulmonic stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Abnormal heart morphology Microcephaly Nystagmus Intellectual disability High palate Growth delay Hypertelorism Muscular hypotonia Cleft palate Ventricular septal defect Hearing impairment Hernia Hypoplasia of the corpus callosum Short neck Proptosis Vomiting Bicuspid aortic valve Strabismus Neoplasm Postnatal growth retardation Respiratory distress Low posterior hairline Micrognathia Pain Congestive heart failure Low-set ears Atrial septal defect Wide nasal bridge Thrombocytopenia Abnormality of cardiovascular system morphology Hydrocephalus Cataract Telecanthus Cryptorchidism Posteriorly rotated ears Ptosis Hypospadias Downslanted palpebral fissures Motor delay Depressed nasal bridge Pectus excavatum Vesicoureteral reflux Patent ductus arteriosus Constipation Intellectual disability, severe Triangular face Inguinal hernia Gastroesophageal reflux Webbed neck Abnormality of the dentition Syndactyly Depressivity Clinodactyly Delayed skeletal maturation Hyperhidrosis Pneumonia Hypertension Abnormal cardiac septum morphology Failure to thrive Hypertrophic cardiomyopathy Behavioral abnormality Headache Myopia Brachycephaly Feeding difficulties Coarctation of aorta Delayed eruption of teeth Cardiomyopathy

Rare Symptoms - Less than 30% cases

Hypertropia Microdontia Congenital diaphragmatic hernia Blue sclerae Abnormal lung morphology Patent foramen ovale Hyperextensible skin Elbow flexion contracture Lymphedema Left ventricular hypertrophy Epicanthus Amblyopia Poor suck Dilatation Sensorineural hearing impairment Aggressive behavior Abnormality of the pinna Congenital cataract Amenorrhea Primary amenorrhea Arnold-Chiari malformation Perimembranous ventricular septal defect Leukemia Retrognathia High, narrow palate Multiple lentigines Respiratory tract infection Craniosynostosis Clubbing Heat intolerance Respiratory failure Pulmonary insufficiency Arthritis Hyperactivity Absent speech Tetralogy of Fallot Mandibular prognathia High forehead Anxiety Cleft upper lip Tapered finger Abdominal distention Otitis media Open mouth Delayed speech and language development Widely spaced teeth Thick eyebrow Pyloric stenosis Ectopic kidney Submucous cleft hard palate Abnormality of the gastrointestinal tract Cognitive impairment Anemia Esotropia Conductive hearing impairment Thin upper lip vermilion Small hand 2-3 toe syndactyly Clinodactyly of the 5th finger Abnormality of the skeletal system Blepharophimosis Facial asymmetry Cerebral cortical atrophy Narrow mouth Prominent forehead Bulbous nose Kyphoscoliosis Anteverted nares Broad forehead Talipes equinovarus Frontal bossing Pectus carinatum Specific learning disability Short metacarpal Short metatarsal Renal hypoplasia Joint laxity Toe syndactyly Hip dislocation Glaucoma Brachydactyly Loose anagen hair Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Nasogastric tube feeding Juvenile myelomonocytic leukemia Flat face Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Preductal coarctation of the aorta Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Amegakaryocytic thrombocytopenia Severe short stature Postductal coarctation of the aorta Malar flattening Highly arched eyebrow Downturned corners of mouth Hirsutism Pulmonary hypoplasia Thin vermilion border Vertigo Astigmatism Micromelia Synophrys Small for gestational age Prominent nasal bridge Autistic behavior Intrauterine growth retardation Pallor Arrhythmia Camptodactyly Proteinuria Hypoglycemia Autism Shield chest Gait ataxia Long philtrum Hypertonia Optic atrophy Macrocephaly Synovitis Neuroblastoma Restrictive cardiomyopathy Short palm Hypotrichosis Sparse hair Low-set, posteriorly rotated ears Polyhydramnios Abdominal pain Hypogonadism Rod-cone dystrophy Splenomegaly Intellectual disability, mild Edema Tachycardia Inability to walk Paralysis Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Bruising susceptibility Abnormal bleeding Atrial flutter Abnormality of color vision Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Sleep disturbance Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Leukocytosis Dental malocclusion Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Azoospermia Plagiocephaly Clumsiness Ventricular hypertrophy Wide intermamillary distance Single transverse palmar crease Recurrent urinary tract infections Microcornea Acute lymphoblastic leukemia Cirrhosis Cough Scarring Carcinoma Dyspnea Muscle weakness Respiratory insufficiency Abnormal ventricular septum morphology Abnormality of lateral ventricle Abnormal aortic valve morphology B-cell lymphoma Abnormality of the sternum Pulmonary arterial hypertension Absent eyebrow Optic nerve hypoplasia Narrow forehead Growth hormone deficiency Lymphoma Cerebellar hypoplasia Abnormality of the palpebral fissures Hyperkeratosis pilaris Curly hair Reduced bone mineral density Nevus Wide mouth Cyanosis Bronchiectasis Dysplastic tricuspid valve Honeycomb lung Chronic pain Chondrocalcinosis Papilledema Premature loss of teeth Osteomalacia Rickets Hypercalcemia Increased intracranial pressure Bone pain Waddling gait Arthralgia Ground-glass opacification on pulmonary HRCT Reticular pattern on pulmonary HRCT Scaling skin Hypocapnia Alveolar cell carcinoma Crackles Ataxia Right ventricular failure Clubbing of fingers Pulmonary infiltrates Polycythemia Exertional dyspnea Interstitial pulmonary abnormality Increased antibody level in blood Pulmonary fibrosis Hyperkeratosis Hypoplastic radial head Renal cyst Abnormality of the urinary system Weak cry Abnormality of digit Limited elbow extension Opisthotonus Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Proximal placement of thumb Self-injurious behavior Deep philtrum Incoordination Hypoplasia of the radius Hypoplastic nipples Relative macrocephaly Torticollis Spontaneous abortion Increased body weight Low anterior hairline Aspiration Long eyelashes Velopharyngeal insufficiency Choanal atresia Hypertrichosis High myopia Sepsis Dislocated radial head Oligodactyly Abnormality of the umbilicus Phocomelia Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Hand oligodactyly Ectrodactyly Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Conotruncal defect Short foot Giant platelets Deeply set eye Abnormality of the cerebral white matter Neurological speech impairment Finger syndactyly Short philtrum Camptodactyly of finger Coloboma Long nose Abnormality of the kidney Slender long bone Abnormal heart valve morphology Hydronephrosis Macrotia Falls Hyperthyroidism Scaphocephaly Periodic paralysis Agenesis of corpus callosum Persistence of primary teeth Delayed eruption of permanent teeth Toe clinodactyly Clinodactyly of the 5th toe Periodic hypokalemic paresis Short mandibular rami Periodic hyperkalemic paralysis Microphthalmia Agenesis of permanent teeth Iris coloboma Antegonial notching of mandible Abnormality of the genital system Sparse eyebrow Hypokalemia Abnormality of the genitourinary system Drooling Aplasia/Hypoplasia of the corpus callosum Myotonia Cutaneous syndactyly Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Recurrent otitis media Everted lower lip vermilion Preauricular pit Sparse scalp hair Fine hair Sloping forehead Dehydration Febrile seizures Focal-onset seizure Loss of consciousness High pitched voice Brain atrophy Hyperkalemia Prolonged QT interval Short nose Diarrhea Bifid scrotum Meningitis Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Cutis laxa Sandal gap Accelerated skeletal maturation Microretrognathia Joint dislocation Osteopenia Narrow nasal bridge Rhizomelia Pes planus Microtia Mitral regurgitation Hypermetropia Cardiomegaly Narrow chest Mitral valve prolapse Abnormality of the foot Genu valgum Talipes Recurrent fractures Restrictive ventilatory defect Aortic root aneurysm Bidirectional ventricular ectopy Accessory carpal bones Prominent frontal sinuses Prominent U wave Flexion contracture Ventriculomegaly Midface retrusion Osteoporosis Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Shoulder dislocation Upper limb undergrowth Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Aplasia/Hypoplasia of the cerebellum Cupped ear Retinal vascular tortuosity Cholelithiasis Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Nasal speech Autoimmune hemolytic anemia Abnormality of the hand Schizophrenia Hypoplasia of the maxilla Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Hallucinations Renal dysplasia Syncope Basal ganglia calcification Axonal loss Peripheral demyelination Pulmonary artery atresia Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Arachnodactyly Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the endocrine system Autoimmune thrombocytopenia Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Psychosis Renal agenesis Rocker bottom foot Bruxism Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Large earlobe Oligodontia Abnormal eye morphology Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Ventricular arrhythmia Supernumerary nipple Growth abnormality Hallux valgus Generalized muscle hypertrophy Abnormal morphology of the hippocampus Underdeveloped nasal alae Hypothyroidism Chorea Bifid uvula Hemolytic anemia Dysmetria Anal atresia Autoimmunity Mental deterioration Short palpebral fissure Tetraparesis Palpitations Umbilical hernia Hypoplasia of dental enamel Decreased body weight Large basal ganglia Dementia Obesity Short phalanx of finger Recurrent infections Immunodeficiency Cerebellar atrophy Cardiac arrest Short chin Scapular winging Ventricular tachycardia Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Premature loss of primary teeth


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