Fever, and Cyanosis

Diseases related with Fever and Cyanosis

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

Top matches:

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Other less relevant matches:

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).A clinically similar disorder characterized by respiratory distress (OMIM ) can affect preterm infants, who show developmental deficiency of surfactant.Acquired PAP (OMIM ) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (OMIM ). Genetic Heterogeneity of Pulmonary Surfactant Metabolism DysfunctionSee also SMDP2 (OMIM ), caused by mutation in the SPTPC gene (OMIM ) on 8p21; SMDP3 (OMIM ), caused by mutation in the ABCA3 gene (OMIM ) on 16p13; SMDP4 (OMIM ), caused by mutation in the CSF2RA gene (OMIM ) on Xp22; and SMDP5 (OMIM ), caused by mutation in the CSF2RB gene (OMIM ) on 22q12.

NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY Is also known as neonatal acute respiratory distress due to surfactant protein b deficiency|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant protein b deficiency|interstitial lung disease, nonspecific, due to surfactant protein b d

Related symptoms:

  • Failure to thrive
  • Pain
  • Hypertension
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY

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

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Medium match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Cyanosis

Symptoms // Phenotype % cases
Apnea Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Abnormal lung morphology Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Respiratory distress Respiratory failure Pneumonia Focal impaired awareness seizure Dyspnea Interstitial pulmonary abnormality Febrile seizures Global developmental delay Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Muscle weakness Clubbing Neonatal respiratory distress Fatigue Pulmonary arterial hypertension Aspiration Muscular hypotonia Strabismus Hypoxemia Paralysis Rigidity Microcephaly Cough Polycythemia Intellectual disability Autoimmunity Muscle stiffness Failure to thrive Generalized tonic-clonic seizures Abnormality of the nervous system Myalgia Pain Hypertension Low-set ears Cognitive impairment Increased body weight Short nose Downslanted palpebral fissures Diarrhea Depressivity Constipation Posteriorly rotated ears Hyperhidrosis Anxiety Low-set, posteriorly rotated ears Postural instability Abnormality of the cardiovascular system Aganglionic megacolon Obesity Ectopic kidney Junctional split Fine hair Hypertelorism Renal insufficiency Recurrent respiratory infections Prominent forehead Narrow mouth Macrotia Proteinuria Erythema Nail dystrophy Narrow chest Round face Abnormal blistering of the skin Nephrotic syndrome Sparse scalp hair Respiratory acidosis Sparse and thin eyebrow Gynecomastia Recurrent pneumonia Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Focal segmental glomerulosclerosis Sleep apnea Fragile skin Tubular atrophy Onycholysis Decreased glomerular filtration rate Crossed fused renal ectopia Abnormal autonomic nervous system physiology Snoring Polyphagia Abnormal cerebellum morphology Absent speech Clinodactyly Clinodactyly of the 5th finger Cerebellar hypoplasia Brachycephaly Gait ataxia Muscular hypotonia of the trunk Pallor Dysmetria Thin vermilion border Flat face Broad-based gait Hypertonia Clonus Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Optic nerve hypoplasia Oral-pharyngeal dysphagia Agitation Ankle clonus Delayed ability to walk Broad face Titubation Long philtrum Cerebellar atrophy Neuroblastoma Abnormality of temperature regulation Hypoventilation Abnormality of the mouth Obstructive sleep apnea Cardiorespiratory arrest Hypothermia Chronic constipation Abnormality of the endocrine system Chronic lung disease Abnormal pupil morphology Central hypoventilation Neoplasm of the central nervous system Triangular mouth Hypoplasia of the corpus callosum Muscle specific kinase antibody positivity Ganglioneuroma Ganglioneuroblastoma Abnormality of the autonomic nervous system Hypercapnia Nystagmus High palate Delayed speech and language development Visual impairment Epicanthus Hyperreflexia Tremor Single fiber EMG abnormality Glycosuria Generalized hypotonia due to defect at the neuromuscular junction Hyperventilation Periodic paralysis Respiratory arrest Laryngospasm Apneic episodes in infancy Abnormality of metabolism/homeostasis Weight loss Chest pain Ventricular hypertrophy Tachypnea Hemoptysis Right ventricular hypertrophy Stridor Foam cells Interstitial pneumonitis Productive cough Alveolar proteinosis Nonproductive cough Desquamative interstitial pneumonitis Neoplasm Congestive heart failure Gastroesophageal reflux Carcinoma Scarring Skeletal muscle hypertrophy Myotonia Bronchiectasis Focal clonic seizures Focal-onset seizure Muscle fibrillation Atonic seizures Generalized tonic-clonic seizures with focal onset Focal seizures, afebril Normal interictal EEG Motor delay Myoclonus Involuntary movements Exercise-induced myalgia Myokymia Ataxia Bradycardia Spasticity Abnormal pyramidal sign Generalized myoclonic seizures Epileptic encephalopathy Status epilepticus Limb ataxia Aspiration pneumonia Developmental stagnation Atypical absence seizures Hemiclonic seizures Elevated serum creatine phosphokinase Cirrhosis Scaling skin Acetylcholine receptor antibody positivity Primary adrenal insufficiency Easy fatigability Systemic lupus erythematosus Poor suck Rheumatoid arthritis Ophthalmoparesis Bulbar palsy Abnormality of the immune system Weak cry Hyperthyroidism Fatigable weakness Hashimoto thyroiditis Diplopia Acrocyanosis Raynaud phenomenon Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Respiratory insufficiency due to muscle weakness Psychosis Pulmonary fibrosis Ground-glass opacification on pulmonary HRCT Increased antibody level in blood Exertional dyspnea Pulmonary infiltrates Clubbing of fingers Right ventricular failure Pulmonary insufficiency Crackles Alveolar cell carcinoma Hypocapnia Reticular pattern on pulmonary HRCT Honeycomb lung Hearing impairment Hepatitis Ptosis Dysarthria Dysphagia Polyhydramnios Proximal muscle weakness Arthrogryposis multiplex congenita Ophthalmoplegia Paresthesia Hemolytic anemia Tapered finger Generalized muscle weakness Truncal titubation


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