Fever, and Atrial septal defect

Diseases related with Fever and Atrial septal defect

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

Top matches:

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Other less relevant matches:

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Medium match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Atrial septal defect

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Ventricular septal defect Micrognathia Abnormal facial shape Hearing impairment Low-set ears Abnormal cardiac septum morphology Motor delay Respiratory distress Recurrent respiratory infections Feeding difficulties Patent ductus arteriosus Anteverted nares Short nose Behavioral abnormality Wide nasal bridge Cleft palate Pain Anemia Strabismus Posteriorly rotated ears Scoliosis Epicanthus Hypothyroidism Dilatation Abnormal heart morphology Growth delay Frontal bossing

Rare Symptoms - Less than 30% cases

Nystagmus Small hand Pectus excavatum Splenomegaly Edema Hypertelorism Flexion contracture Downslanted palpebral fissures Talipes equinovarus Short neck Anxiety Hypermetropia Webbed neck Gastroesophageal reflux Talipes Constipation Vomiting Midface retrusion Myopia Pulmonic stenosis Osteoporosis Pectus carinatum Polyhydramnios Lymphedema Peripheral neuropathy Joint laxity Recurrent infections Submucous cleft hard palate Adducted thumb Widely spaced teeth High palate Short palpebral fissure Sloping forehead Falls Abnormality of the foot Microtia Brain atrophy Narrow mouth Cupped ear Amblyopia Patent foramen ovale Abnormality of cardiovascular system morphology Elbow flexion contracture Esotropia Depressed nasal bridge Ptosis Cryptorchidism Recurrent fractures Failure to thrive Microcephaly Hypertension Cerebral cortical atrophy Skeletal muscle atrophy Cerebral hemorrhage Difficulty walking Abnormality of movement Respiratory failure Congestive heart failure Ascites Mitral valve prolapse Cardiomegaly Apnea Heart murmur Abnormal lung morphology Jaundice Ataxia Respiratory insufficiency Coarctation of aorta Bicuspid aortic valve Talipes valgus Intellectual disability, severe Lumbar scoliosis Hypoplasia of the corpus callosum Knee dislocation Ventriculomegaly Talipes equinovalgus Broad long bones Hypertropia Bilateral elbow dislocations Multiple joint dislocation Broad distal phalanges of all fingers Thickened cortex of long bones Spatulate thumbs Shoulder dislocation Prominent antitragus Enlarged metaphyses Accessory carpal bones Metacarpophalangeal joint hyperextensibility Hypospadias Diarrhea Telecanthus Cleft upper lip Abnormality of the cerebral white matter Neurological speech impairment Finger syndactyly Short philtrum Camptodactyly of finger Coloboma Postnatal growth retardation Flexion contracture of toe Abnormality of the kidney Hydronephrosis Syndactyly Deeply set eye Macrotia Temperature instability High forehead Mandibular prognathia Agenesis of corpus callosum Depressivity Endocardial fibroelastosis Absent speech Microphthalmia Abnormality of the abdominal wall Overlapping fingers Deep palmar crease Hypoplastic iliac body Blue sclerae Low posterior hairline Congenital diaphragmatic hernia Microdontia Elevated pulmonary artery pressure Short metacarpal Contracture of the proximal interphalangeal joint of the 5th finger Thick eyebrow Flat face Arachnodactyly Smooth tongue Left ventricular hypertrophy Increased upper to lower segment ratio Shivering Broad ischia Absent patellar reflexes Abnormal metaphyseal trabeculation Genu valgum Narrow chest Hip dislocation Blotching pigmentation of the skin Pulmonary arterial medial hypertrophy Pes planus Mitral regurgitation Rhizomelia Small face Thoracic hypoplasia Generalized osteoporosis 11 pairs of ribs Multiple skeletal anomalies Everted lower lip vermilion Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Square face Restrictive ventilatory defect Congenital glaucoma Bilateral talipes equinovarus Meningitis Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Mitochondrial respiratory chain defects Hyperextensible skin Cutis laxa Sandal gap Accelerated skeletal maturation Microretrognathia Joint dislocation Pursed lips Iris coloboma Decreased fetal movement Tapered finger Spastic paraparesis Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Aminoaciduria Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Abnormality of dental enamel Opacification of the corneal stroma Abnormal morphology of the hippocampus Nasal speech Metaphyseal widening Congenital contracture Cubitus valgus Myotonia Esodeviation Mask-like facies Flared metaphysis Broad columella Femoral bowing Abnormal eye morphology Knee flexion contracture Large earlobe Pulmonary arterial hypertension Single transverse palmar crease Pulmonary hypoplasia Hepatic failure Corneal opacity Camptodactyly Skeletal dysplasia Hyperhidrosis Visual loss Clinodactyly Malar flattening Thin skin Large basal ganglia Bowing of the long bones Short phalanx of finger Sensorimotor neuropathy Hoarse voice Abnormality of the skeletal system Dysphagia Narrow face Abnormal autonomic nervous system physiology Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Paraparesis Broad hallux phalanx Bruxism Delayed eruption of teeth Sparse scalp hair Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Megaloblastic anemia Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Abnormality of the genital system Recurrent otitis media Open mouth Enlarged joints Abnormality of the genitourinary system Fine hair Dehydration Ulnar deviation of the hand Tetralogy of Fallot Febrile seizures Focal-onset seizure Limb undergrowth Otitis media Vesicoureteral reflux Abdominal distention Wide nasal base Drooling Poor suck Abnormality of the gastrointestinal tract Hallux valgus Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Osteopenia Supernumerary nipple Ectopic kidney Rocker bottom foot Pyloric stenosis Tibial bowing Hypokinesia Pathologic fracture Thin ribs Impaired pain sensation Ulnar deviation of finger Bifid scrotum Aplasia/Hypoplasia of the cerebellum Episodic fever Sparse eyebrow Short tibia Drowsiness Abnormality of vision Kyphoscoliosis Brachydactyly Short foot Broad forehead Attention deficit hyperactivity disorder Wide mouth Autistic behavior Hyperlordosis Low-set, posteriorly rotated ears Thin upper lip vermilion Autism Hyperactivity Delayed speech and language development Broad-based gait Pulmonic valve myxoma Cardiac myxoma Bacterial endocarditis Increased inflammatory response Orthopnea Endocarditis Pulmonary edema Edema of the lower limbs Subarachnoid hemorrhage Growth hormone excess Dilatation of the cerebral artery Small nail Obsessive-compulsive behavior Exertional dyspnea Intestinal lymphangiectasia Retrognathia Severe short stature Clinodactyly of the 5th finger Long philtrum Abnormality of the dentition Optic atrophy Genital edema Pulmonary lymphangiectasia Prune belly Facial edema Stomatocytosis Hemolytic anemia Chylothorax Periorbital edema Spherocytosis Generalized edema Nonimmune hydrops fetalis Varicose veins Hydrocele testis Deep venous thrombosis Cellulitis Pericardial effusion Hydrops fetalis Thromboembolism Tricuspid regurgitation Feeding difficulties in infancy Aortic arch aneurysm Pneumonia Dystonia Dysarthria Thoracic aorta calcification Bicuspid pulmonary valve Abnormality of the left ventricular outflow tract Mitral atresia Cystic medial necrosis Hypoplastic aortic arch Ascending aortic dissection Aortic valve calcification Respiratory tract infection Thoracic aortic aneurysm Asymmetric septal hypertrophy Mitral stenosis Aortic dissection Double outlet right ventricle Hypoplastic left heart Aortic aneurysm Aortic regurgitation Aortic valve stenosis Hypertrophic cardiomyopathy Cardiomyopathy Gait ataxia Sleep disturbance Easy fatigability Compensated hypothyroidism Ischemic stroke Neoplasm of the skin Cholestasis Syncope Chest pain Coma Abnormality of skin pigmentation Confusion Headache Cognitive impairment Thyroid dysgenesis Increased thyroid-stimulating hormone level Asthma Parkinsonism with favorable response to dopaminergic medication Congenital hypothyroidism Abnormality of the thyroid gland Interstitial pulmonary abnormality Athetosis Neonatal respiratory distress Hyperkinesis Infantile muscular hypotonia Recurrent pneumonia Choreoathetosis Chorea Proteinuria Blepharophimosis Proptosis Leukopenia Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Albinism Melanocytic nevus Decreased nerve conduction velocity Cranial nerve paralysis Foot dorsiflexor weakness Periodontitis Skin ulcer Hyperpigmentation of the skin Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Pancytopenia Abnormality of extrapyramidal motor function Bradykinesia Peripheral demyelination Gastrointestinal hemorrhage Lymphoma Gingivitis Fair hair Abnormal bleeding Giant melanosomes in melanocytes Glaucoma Brachycephaly Prominent forehead Delayed skeletal maturation Inguinal hernia Hernia Hydrocephalus Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Recurrent cutaneous abscess formation Generalized hypopigmentation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Parkinsonism Hypopigmentation of the skin Joint hyperflexibility Prominent occiput Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Bladder diverticulum Hypoplasia of teeth Abnormality of the antihelix Stenosis of the external auditory canal Atrioventricular canal defect Long nose Scrotal hypoplasia Abnormality of the cheek Bilateral single transverse palmar creases Sparse and thin eyebrow Interphalangeal joint contracture of finger Hypsarrhythmia Specific learning disability Prominent nose Bifid uvula Triangular face Bulbous nose Thin vermilion border Smooth philtrum Neoplasm of the tongue Neoplasm Neutropenia Mental deterioration Neurodegeneration Sensory neuropathy Bruising susceptibility Peripheral axonal neuropathy Lymphadenopathy Paresthesia Paraplegia Spastic paraplegia Leukemia Developmental regression Abnormality of the eye Rigidity Visual impairment Photophobia Hepatosplenomegaly Reduced visual acuity Hyporeflexia Areflexia Thrombocytopenia Immunodeficiency Cerebellar atrophy Gait disturbance Tremor Hepatomegaly Metaphyseal rarefaction


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Aggressive behavior, related diseases and genetic alterations Motor delay and Choanal atresia, related diseases and genetic alterations