Fever, and Lumbar hyperlordosis

Diseases related with Fever and Lumbar hyperlordosis

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

Top matches:

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

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

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Other less relevant matches:

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

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

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

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Fever and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Hyperlordosis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

High palate Vomiting Flexion contracture Seizures Feeding difficulties Hyperhidrosis Osteopenia Constipation Short neck Kyphosis Respiratory insufficiency Myopathy Ptosis Myopia Hypertension Strabismus Motor delay Low-set ears Apnea Pain Growth delay Failure to thrive Acidosis Hypoglycemia Hepatomegaly Hyporeflexia Rigidity Proximal muscle weakness Arthrogryposis multiplex congenita Limb muscle weakness Metabolic acidosis Dysphagia Waddling gait Gliosis Cardiomyopathy Malignant hyperthermia High pitched voice Respiratory arrest Sleep apnea Cataract Congestive heart failure Respiratory distress Facial palsy Kyphoscoliosis Depressed nasal bridge Camptodactyly Muscular hypotonia Anteverted nares Respiratory failure Depressivity Abnormal autonomic nervous system physiology Elbow flexion contracture Abnormality of the cerebral white matter

Rare Symptoms - Less than 30% cases

Nausea and vomiting Weight loss Gait disturbance Diarrhea Cognitive impairment Headache Pneumonia Dementia Hypothyroidism Tetraplegia Ketonuria Temperature instability Hip contracture Proteinuria Leukodystrophy Decreased testicular size Talipes Platyspondyly Osteoporosis Clonus Drowsiness Frontal bossing Severe short stature Sleep disturbance Thin upper lip vermilion Tremor Developmental regression Wide mouth Generalized aminoaciduria Glycosuria Pancreatitis Edema Increased body weight Neonatal hypotonia Obesity Cough Short foot Small hand Generalized muscle weakness Poor head control Hypoventilation Autistic behavior Malabsorption Gastroesophageal reflux Micrognathia Ataxia Spasticity Dysarthria Behavioral abnormality Brachydactyly Protuberant abdomen Encephalitis Hyperlipidemia Heterotopia Macrocephaly Ketosis Nephropathy Hepatic steatosis Autism Talipes equinovarus Myotonia Cryptorchidism Thoracic kyphosis Renal insufficiency Myoglobinuria Malar flattening Acute kidney injury Midface retrusion Arrhythmia Ventricular fibrillation Elevated serum creatine phosphokinase Full cheeks Myalgia Stroke Pectus carinatum Muscular dystrophy Lactic acidosis Clinodactyly Muscle cramps Decreased fetal movement Hypotension Hypertelorism Rhabdomyolysis Poor suck Limited elbow extension Skeletal muscle atrophy Thoracolumbar scoliosis Excessive salivation Axial muscle weakness Hyperammonemia Spastic tetraparesis Scapular winging Exercise intolerance Type I diabetes mellitus Cardiac arrest Reduced vital capacity Carcinoma Mutism Decreased liver function Wide anterior fontanel Peroneal muscle atrophy Muscle fiber necrosis Anorexia Left ventricular hypertrophy Nocturnal hypoventilation Ragged-red muscle fibers Easy fatigability Renal dysplasia Cardiorespiratory arrest Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Progressive proximal muscle weakness Abnormality of the rib cage Syndactyly Fatigable weakness Difficulty climbing stairs Restrictive ventilatory defect Restrictive deficit on pulmonary function testing Stridor Hemiplegia Back pain Polycystic kidney dysplasia Slurred speech Orthopnea Tetraparesis Pachygyria Dyspnea Abnormality of the pinna Hypertrophic cardiomyopathy Telecanthus Elevated hepatic transaminase Difficulty walking Jaundice Arthralgia High forehead Carious teeth Abnormality of the liver Gait ataxia Areflexia Cardiac conduction abnormality Encephalopathy Abnormality of the foot Fatigue Cubitus valgus Scaling skin Round face Respiratory tract infection Dilated cardiomyopathy Abnormality of the genital system Coma Sensorimotor neuropathy Crackles Minicore myopathy Cardiomegaly Aciduria Increased serum lactate Feeding difficulties in infancy Hamstring contractures Renal cyst Loss of ability to walk Lethargy Limited neck flexion Pulmonary hypoplasia Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Nausea Joint hyperflexibility Protruding ear Congenital cataract Abnormal corpus callosum morphology Hypoglycemic coma Acute pancreatitis Hyperpigmented nevi Smooth philtrum Coarse facial features Retrognathia Polyhydramnios Mandibular prognathia Micropenis Hypogonadism Absent speech Short nose Diffuse demyelination of the cerebral white matter Microcoria Recurrent singultus Inability to walk Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Atrophy/Degeneration affecting the brainstem Thick eyebrow Tapered finger Progressive spasticity Akinesia Narrow palm Multiple pterygia Abnormality of the philtrum Hyperinsulinemic hypoglycemia Misalignment of teeth Fetal akinesia sequence Hyperventilation Delayed ability to walk Short humerus Polyphagia Rocker bottom foot Impulsivity Esotropia Trigonocephaly Hyperinsulinemia Failure to thrive in infancy Pterygium Adducted thumb Microretrognathia Exotropia Open mouth Short palpebral fissure Narrow forehead Wide intermamillary distance Muscle fibrillation Bowel incontinence Oliguria Glutaric acidemia 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 Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Arthralgia of the hip Electron transfer flavoprotein-ubiquinone oxidoreductase defect Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Right ventricular hypertrophy Personality disorder Progressive spastic quadriplegia Glutaric aciduria Hepatic periportal necrosis Abnormality of blood glucose concentration Dysphasia Chorea Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Dysphonia Leukoencephalopathy Muscle stiffness Diplopia Cerebral calcification Peripheral demyelination Amenorrhea Sudden cardiac death Nystagmus Peripheral neuropathy Dysmetria Abnormality of eye movement Neurological speech impairment Abnormal pyramidal sign EEG abnormality Diabetes mellitus Agenesis of corpus callosum Hydrocephalus Long philtrum Hyperreflexia Cor pulmonale Renal cell carcinoma Radial deviation of finger Scarring Neutropenia Tachypnea Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Ventricular arrhythmia Hip dislocation Corneal opacity Autoimmunity Deep philtrum Shock Abnormality of the kidney Abnormality of the coagulation cascade Myopathic facies Hyperkalemia Thrombocytopenia Recurrent infections Abnormality of the sternum Immunodeficiency Abnormality of the dentition Scaphocephaly Abnormal cerebellum morphology Brain atrophy Intrauterine growth retardation Bone marrow hypocellularity Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Webbed neck Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Atherosclerosis Opacification of the corneal stroma Lymphopenia Migraine Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Intellectual disability, profound Nephrotic syndrome Microdontia Lymphedema Lymphoma Premature birth Cerebellar atrophy Anemia Melanocytic nevus Long upper lip Coxa valga Generalized hirsutism EMG abnormality Congenital hip dislocation Joint contracture of the hand Bowing of the long bones Congenital ptosis Microcornea Recurrent fractures Flat face Sinus tachycardia Narrow palpebral fissure Blepharophimosis Pes planus Umbilical hernia Skeletal dysplasia Mixed respiratory and metabolic acidosis Proptosis Narrow mouth Microcephaly Delayed skeletal maturation Inguinal hernia Coxa vara Diaphragmatic eventration Low hanging columella Flexion contracture of toe Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Hyperphosphatemia Spinal deformities Metaphyseal widening Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Breech presentation Severe lactic acidosis Skeletal muscle hypertrophy Overfolded helix Nephritis Spondyloepiphyseal dysplasia Neck muscle weakness Polyuria Renal tubular dysfunction Epicanthus Poor appetite Renal tubular acidosis Hyperuricemia Osteomalacia Downslanted palpebral fissures Reduced subcutaneous adipose tissue Hypophosphatemia Bowing of the legs Hyperglycemia Fasting hypoglycemia Rickets Polydipsia Hypercalciuria Elevated alkaline phosphatase Hypokalemia Hypercholesterolemia Hypertonia Aminoaciduria Abdominal distention Dilatation Hyperphosphaturia Microalbuminuria Pectus excavatum Abnormality of the skeletal system Spinal rigidity Generalized amyotrophy Increased variability in muscle fiber diameter Congenital muscular dystrophy Gowers sign Nasal speech 2-3 toe syndactyly Progressive muscle weakness Ventricular hypertrophy Opisthotonus Trismus Hypouricemia Unexplained fevers Cold-induced sweating Chronic acidosis Galactose intolerance Impairment of galactose metabolism Hyperuricosuria Galactosuria Albuminuria Mild proteinuria Hypergalactosemia Hepatosplenomegaly Obsessive-compulsive behavior Focal segmental glomerulosclerosis B-cell lymphoma Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Multiple lentigines Ovoid vertebral bodies Transient ischemic attack Abnormality of the vasculature Abnormal bleeding Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency Emphysema Mucopolysacchariduria Steroid-resistant nephrotic syndrome Broad-based gait Atrial septal defect Small nail Pes cavus Hypermetropia Broad forehead Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Anxiety Hyperactivity Posteriorly rotated ears Tachycardia Joint hypermobility Shallow acetabular fossae Delayed speech and language development Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Intermittent hyperventilation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Sparse hair, related diseases and genetic alterations Neuroblastoma and Arthritis, related diseases and genetic alterations