Fever, and Joint hypermobility

Diseases related with Fever and Joint hypermobility

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

Top matches:

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Medium match HYPERTRYPTOPHANEMIA

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Other less relevant matches:

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low 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

Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

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 MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Joint hypermobility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Joint hyperflexibility Ptosis Abnormal facial shape Abnormality of the face Hypertelorism Behavioral abnormality Strabismus Failure to thrive Joint laxity Dilatation Recurrent fractures Recurrent respiratory infections Osteoporosis Bladder diverticulum Muscle weakness Short stature Wide nasal bridge Cryptorchidism Low-set ears Depressed nasal bridge Myopathy Microcephaly Pectus excavatum Arrhythmia Acute kidney injury Ventricular fibrillation Abnormality of the dentition Encephalopathy Umbilical hernia Flexion contracture Dysphagia Depressivity Inguinal hernia Jaundice Hypoglycemia Arthralgia Hyperextensible skin Diarrhea Hypothermia

Rare Symptoms - Less than 30% cases

Coxa valga Optic atrophy Hypertrophic cardiomyopathy Nausea and vomiting Abnormality of the pinna High forehead Gastroesophageal reflux Ventricular septal defect Coma Micrognathia Feeding difficulties Cardiomegaly Long philtrum Tetraparesis Cardiac arrest Hearing impairment Spastic tetraparesis Respiratory arrest Myoglobinuria Rhabdomyolysis Myopathic facies Ventricular arrhythmia Shock Muscle cramps Metabolic acidosis Venous insufficiency Hypothyroidism Abnormality of cardiovascular system morphology Constipation Choreoathetosis Increased serum lactate Gliosis Intellectual disability, severe Hernia Scarring Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Difficulty walking Spasticity Motor delay Dysarthria Fatigue Limb muscle weakness Patent ductus arteriosus Wormian bones Decreased liver function Atypical scarring of skin Exostoses Specific learning disability Coarse hair Cutis laxa Chronic diarrhea Narrow chest Hip dislocation Prominent occiput Pain Hepatomegaly Tremor Respiratory distress Lactic acidosis Feeding difficulties in infancy Epicanthus Elevated serum creatine phosphokinase Hyperhidrosis Cleft palate Recurrent infections Prominent forehead Bruising susceptibility Osteopenia Skin rash Pes planus Osteomyelitis Lymphoma Renal insufficiency Kyphosis Hypertonia Downslanted palpebral fissures High palate Acidosis Generalized joint laxity Pectus carinatum Limited elbow extension Hyperlordosis Proximal muscle weakness Myalgia Interphalangeal joint contracture of finger Myopia Adducted thumb Carious teeth Autistic behavior Abnormal cardiac septum morphology Capitate-hamate fusion Hypoplasia of dental enamel Pulmonary arterial hypertension Tetralogy of Fallot Syncope Microdontia Sudden cardiac death Broad clavicles Large iliac wings Toe syndactyly Esotropia Hypoplasia of the maxilla Round face Abnormality of the pubic bone Dental crowding Cutaneous syndactyly Sinusitis Bronchitis Synostosis of joints Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Long neck Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Mixed hearing impairment Bradycardia Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular tachycardia Abnormality of dental enamel Hypocalcemia Thin upper lip vermilion Abnormal heart morphology Aplasia/hypoplasia of the humerus Progressive spastic quadriplegia Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Carotid artery tortuosity Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Glutaric aciduria Glutaric acidemia Oliguria Generalized aminoaciduria Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Arthralgia of the hip Increased muscle lipid content Autism Electron transfer flavoprotein-ubiquinone oxidoreductase defect Rudimentary to absent tibiae Pelvic bone exostoses Bladder carcinoma Pneumonia Limited knee extension Persistent open anterior fontanelle Immunodeficiency Syndactyly Cognitive impairment Ureteral obstruction Abnormality of blood glucose concentration Hepatic periportal necrosis Ketotic hypoglycemia Abnormality of esophagus physiology Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Aortic rupture Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Frontal balding Cerebral atrophy Abnormality of dental color Short humerus Hypocupremia Multiple joint dislocation Bilateral ptosis Rickets Delayed cranial suture closure Spontaneous hematomas Arterial stenosis Orthostatic hypotension Osteomalacia Dislocated radial head Trichorrhexis nodosa Metaphyseal spurs Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Short clavicles Woolly hair Soft skin Carpal synostosis Chronic fatigue Abnormality of lipid metabolism Hypopigmentation of hair Abnormal carotid artery morphology Therapeutic abortion Tarsal synostosis Short palm Large fontanelles Coxa vara Recurrent urinary tract infections Cholestasis Blue sclerae Hepatitis Cerebral calcification Convex nasal ridge Hip dysplasia High, narrow palate Osteolysis Brachydactyly Long face Poor suck Genu valgum Platyspondyly Dolichocephaly Redundant skin Hydronephrosis Intellectual disability, mild Talipes equinovarus Abnormality of the skeletal system Skeletal muscle atrophy Prolonged neonatal jaundice Opisthotonus Absent tibia Dementia Avascular necrosis of the capital femoral epiphysis Dry skin Abnormality of fibula morphology Femoral hernia Malabsorption Severe global developmental delay Sparse hair Developmental regression Thick hair Brachycephaly Aplastic clavicle Neurodegeneration Gastroparesis Keloids Abnormality of the sense of smell Narrow face Cerebellar atrophy Intrauterine growth retardation Growth delay Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Prominent superficial veins Broad ribs Cerebral hemorrhage Premature skin wrinkling Mask-like facies Metaphyseal widening Intracranial hemorrhage Hiatus hernia Abnormal palate morphology Abnormality of the skull Joint dislocation Down-sloping shoulders Thickened skin Esophagitis Bowing of the long bones Hypopigmentation of the skin Abnormality of the metaphysis Sparse scalp hair Progressive neurologic deterioration Fine hair Intellectual disability, profound Abnormality of the wrist Generalized-onset seizure Gastrointestinal hemorrhage Chorea Full cheeks Sepsis Organic aciduria Areflexia Excessive daytime somnolence Breech presentation Clinodactyly of the 5th finger Short nose Atrial septal defect Anteverted nares Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Severe lactic acidosis Hyperphosphatemia Posteriorly rotated ears Low hanging columella Thoracic kyphosis Malignant hyperthermia Scaphocephaly Abnormality of the sternum Hyperkalemia Abnormality of the coagulation cascade Myotonia Deep philtrum Tachypnea Lymphedema Severe short stature Narrow mouth Decreased fetal movement Hypsarrhythmia Hypoplasia of teeth Abnormality of the antihelix Stenosis of the external auditory canal Submucous cleft hard palate Atrioventricular canal defect Long nose Scrotal hypoplasia Widely spaced teeth Bilateral single transverse palmar creases Sparse and thin eyebrow Short palpebral fissure Sloping forehead Polyhydramnios Prominent nose Bifid uvula Triangular face Bulbous nose Thin vermilion border Smooth philtrum Abnormality of the foot Microtia Blepharophimosis Proteinuria Retrognathia Lumbar hyperlordosis Hypotension Thyroid hypoplasia Intellectual disability, moderate Deeply set eye Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Overweight Emotional lability High myopia Camptodactyly of finger Aggressive behavior Cough Visual impairment Sensorineural hearing impairment Gingival recession Periodontitis Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Osteoarthritis Irritability Craniosynostosis Papule Webbed neck Paronychia Abnormal bleeding Tachycardia Arthrogryposis multiplex congenita Muscular dystrophy Stroke Rigidity Kyphoscoliosis Pes cavus Midface retrusion Malar flattening Generalized abnormality of skin Increased IgE level Pruritus Atelectasis Dystrophic fingernails Gingivitis Cellulitis Skin vesicle Chronic otitis media Eosinophilia Abnormality of the hair Skin ulcer Eczema Delayed eruption of teeth Abnormal nasolacrimal system morphology Ectopic thyroid Ketonuria Nausea Heterotopia Pachygyria Abnormality of the genital system Waddling gait Aciduria Generalized muscle weakness Tetraplegia Renal cyst Hepatic steatosis Pulmonary hypoplasia Congenital cataract Left ventricular hypertrophy Abnormality of the cerebral white matter Lethargy Dilated cardiomyopathy Telecanthus Dyspnea Weight loss Gait ataxia Respiratory failure Neoplasm Headache Congestive heart failure Renal dysplasia Anorexia Edema Polycystic kidney dysplasia Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Drowsiness Fatigable weakness Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Stridor Hemiplegia Back pain Slurred speech Wide anterior fontanel Easy fatigability Poor head control Mutism Ragged-red muscle fibers Hyperammonemia Pancreatitis Scapular winging Exercise intolerance Type I diabetes mellitus Clonus Leukodystrophy Vomiting Cardiomyopathy Thyroid agenesis Abnormality of eye movement Involuntary movements Apraxia Delayed myelination Single transverse palmar crease Polyneuropathy Short foot Small hand Paresthesia Dysmetria Abnormality of movement Corneal opacity Postnatal microcephaly Abnormality of the eye Apnea EEG abnormality Myoclonus Hyporeflexia Splenomegaly Dystonia Ventriculomegaly Peripheral neuropathy Abnormality of the cheek Neoplasm of the tongue Decreased body weight Aspiration Respiratory insufficiency Decreased sensory nerve conduction velocity Gait disturbance Macrocephaly Cataract Ataxia Decreased CSF/serum albumin ratio Decreased CSF albumin Decreased CSF 5-hydroxyindolacetic acid High myoinositol in brain by MRS Intrinsic hand muscle atrophy Perivascular spaces Corneal ulceration Elevated alpha-fetoprotein Cone/cone-rod dystrophy Alacrima Pain insensitivity Action tremor Blepharitis Restlessness Axonal loss Muscle fibrillation Anhidrosis Oral-pharyngeal dysphagia Hyperkinesis Sleep apnea Humerus varus


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