Fever, and Arthrogryposis multiplex congenita

Diseases related with Fever and Arthrogryposis multiplex congenita

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


Top matches:

High match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


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

High match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

High match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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Other less relevant matches:

High match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

High match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

High match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

High match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


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

High match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

High match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Fever and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Fever and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Skeletal muscle atrophy Flexion contracture Scoliosis Global developmental delay Microcephaly High palate Short stature Malignant hyperthermia Proximal muscle weakness Ptosis Hepatomegaly Generalized muscle weakness Areflexia Congestive heart failure Cognitive impairment Motor delay Kyphoscoliosis Intellectual disability Growth delay Hearing impairment Muscle cramps Talipes Muscular dystrophy Facial palsy Hypertrophic cardiomyopathy Apnea Distal arthrogryposis Respiratory failure Respiratory distress Epicanthus Hypertelorism Hypertonia Ventriculomegaly Myopathic facies Cerebral atrophy Short neck Polyhydramnios Muscular hypotonia Cardiomyopathy Ophthalmoparesis Lactic acidosis Kyphosis Rigidity Acidosis Arrhythmia Micrognathia Cryptorchidism Strabismus Hyporeflexia

Rare Symptoms - Less than 30% cases


Hyperkalemia Hypertension Nasal speech Edema Gowers sign Abnormality of the cerebral white matter Stroke Malar flattening Episodic fever Elevated serum creatine phosphokinase Ventricular hypertrophy Limb muscle weakness Myalgia Hyperlordosis Abnormality of the liver Renal insufficiency Developmental regression Abnormality of the skeletal system Downslanted palpebral fissures Low-set ears Telecanthus Psychomotor deterioration Blepharophimosis Severe lactic acidosis Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Congenital contracture Anemia Diarrhea Metabolic acidosis Polymicrogyria Encephalopathy Hip contracture Recurrent infections Jaundice Optic atrophy Visual impairment Nystagmus Proteinuria Abnormality of the pinna Rhabdomyolysis Flat face Polyneuropathy Adducted thumb Abnormality of immune system physiology Respiratory arrest Restrictive deficit on pulmonary function testing Pectus excavatum Midface retrusion Cerebellar atrophy Hyperhidrosis Neonatal hypotonia Hip dislocation Fatigue Decreased fetal movement Intrauterine growth retardation Cleft palate Spinal rigidity Rheumatoid arthritis Mask-like facies Psychosis Minicore myopathy Breech presentation Talipes equinovarus Easy fatigability Hyperthyroidism Ophthalmoplegia Abnormal pyramidal sign Dysarthria Dysphagia Dyspnea Paresthesia Hashimoto thyroiditis Primary adrenal insufficiency Diabetes mellitus Abdominal pain Dementia Decreased body weight Osteoporosis Rod-cone dystrophy Hemiparesis Cerebral cortical atrophy Gait ataxia Cerebellar hypoplasia Involuntary movements Hypertrichosis Hypogonadism Myoclonus Anal atresia Constipation Truncal ataxia Gait disturbance Blindness Vomiting Generalized hirsutism EMG abnormality Abnormality of the dentition Dystonia Headache Depressivity Cardiac arrest Left ventricular hypertrophy Clonus Cerebral visual impairment Visual loss Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Delayed skeletal maturation Atrial fibrillation Anorexia Weight loss Pulmonary arterial hypertension Autism Generalized myoclonic seizures Generalized tonic-clonic seizures Lethargy Congenital cataract Carious teeth Increased serum lactate Migraine Sensory impairment Nausea and vomiting Sudden cardiac death Abnormal cerebellum morphology Dilated cardiomyopathy Postural instability Coma Nephropathy Hirsutism Nausea Peripheral axonal neuropathy Vertigo Ichthyosis Malabsorption Delayed puberty Pruritus Neurological speech impairment Hypothyroidism Bilateral sensorineural hearing impairment Gastroesophageal reflux Photophobia Status epilepticus EEG abnormality Dysmetria Type II diabetes mellitus Nephrotic syndrome Anxiety Mental deterioration Feeding difficulties in infancy Generalized-onset seizure Memory impairment Protruding ear Erythema Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Nyctalopia Hip dysplasia Attention deficit hyperactivity disorder Confusion Aortic aneurysm Hypogonadotrophic hypogonadism Speech apraxia Writer's cramp Muscle fiber atrophy Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Left ventricular failure Leber optic atrophy Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Persistence of primary teeth Spontaneous hematomas Cardiorespiratory arrest Edema of the dorsum of hands Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Abnormal mitochondrial morphology Gastroparesis Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Facial diplegia Delusions Type I diabetes mellitus Growth abnormality Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Hyponatremia Hyperreflexia Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Hyperkinesis Hemiplegia/hemiparesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Bifid scrotum Focal segmental glomerulosclerosis Transient ischemic attack Thyroiditis Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Atopic dermatitis Drowsiness Pulmonary embolism Basal ganglia calcification Abnormality of neuronal migration Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Tremor Joint hypermobility Peripheral neuropathy Clubbing of toes High pitched voice Increased variability in muscle fiber diameter Congenital muscular dystrophy Poor head control Elbow flexion contracture Progressive muscle weakness Waddling gait Cough Pneumonia Abnormality of the Leydig cells Erythema nodosum Neck muscle weakness Clubbing of fingers Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Right bundle branch block Hyperostosis Lipodystrophy Subcutaneous nodule Abnormality of the face Generalized amyotrophy Hypoventilation Cardiomegaly Limited neck flexion Tetraplegia Irritability Muscular hypotonia of the trunk Retrognathia Hypoplasia of the corpus callosum Spasticity Cardiac conduction abnormality Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Hamstring contractures Thoracolumbar scoliosis Crackles Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Reduced vital capacity Axial muscle weakness Abnormality of the rib cage Cor pulmonale Right ventricular hypertrophy Thick lower lip vermilion Prominent nose Wide intermamillary distance Poor suck EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Myositis Raynaud phenomenon Acrocyanosis Fatigable weakness Weak cry Abnormality of the immune system Glycosuria Bulbar palsy Systemic lupus erythematosus Pure red cell aplasia Respiratory insufficiency due to muscle weakness Aspiration Diplopia Hepatitis Cyanosis Tapered finger Hemolytic anemia Autoimmunity Paralysis Respiratory tract infection Abnormality of the thymus Hyperacusis Macroglossia Skeletal myopathy Lymphadenopathy Arachnodactyly Skin rash Joint stiffness Arthralgia Macrotia Splenomegaly Intellectual disability, mild Stooped posture Generalized limb muscle atrophy Type 1 muscle fiber predominance Decreased miniature endplate potentials Nemaline bodies Centrally nucleated skeletal muscle fibers Limb-girdle muscular dystrophy Congenital hip dislocation Pes planus Single fiber EMG abnormality Muscle specific kinase antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Acetylcholine receptor antibody positivity Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Brain atrophy Spastic tetraplegia Cataract Long upper lip Mandibular prognathia Narrow mouth Glaucoma Prominent forehead Inguinal hernia Long philtrum Short nose Wide nasal bridge Mixed respiratory and metabolic acidosis Sinus tachycardia Congenital ptosis Arthritis Diaphragmatic eventration Hyperphosphatemia Low hanging columella Thoracic kyphosis Myoglobinuria Scaphocephaly Acute kidney injury Abnormality of the sternum Abnormality of the coagulation cascade Ventricular fibrillation Deeply set eye Camptodactyly Deep philtrum Dimple chin Pain Sensorineural hearing impairment Ataxia Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Trismus Postnatal growth retardation Atrophy/Degeneration affecting the brainstem Rocker bottom foot Pterygium Spina bifida occulta Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Small for gestational age Myotonia Ventricular arrhythmia Tetraparesis Progressive leukoencephalopathy Ankle contracture Tented upper lip vermilion Open mouth Short palpebral fissure Narrow forehead Downturned corners of mouth Long face Abnormality of the foot Conductive hearing impairment Brachycephaly Frontoparietal polymicrogyria Behavioral abnormality Diffuse leukoencephalopathy Primitive reflex Pendular nystagmus Loss of speech Opisthotonus Agitation Leukoencephalopathy Spastic tetraparesis Severe muscular hypotonia Leukodystrophy Multiple skeletal anomalies Thrombocytopenia Tachypnea Abnormal facial shape Shock Lymphedema Lumbar hyperlordosis Hypotension Webbed neck Abnormal bleeding Tachycardia Pectus carinatum Pes cavus Dilatation Mild proteinuria Abnormal heart morphology Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Inverted nipples Protruding tongue Cholestasis Dehydration Delayed myelination Thick vermilion border Elevated hepatic transaminase Hepatosplenomegaly Prominent ear helix



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