Fever, and Joint laxity

Diseases related with Fever and Joint laxity

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

Top matches:

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

High match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

High 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

Other less relevant matches:

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

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

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Related symptoms:

  • Muscular hypotonia
  • Motor delay
  • Talipes equinovarus
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about CENTRAL CORE DISEASE

Medium 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

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Osteoporosis Abnormal facial shape Microcephaly Low-set ears Pes planus Micrognathia Long philtrum Failure to thrive Inguinal hernia Hernia Specific learning disability Talipes equinovarus Abnormality of the skeletal system Downslanted palpebral fissures Motor delay High palate Ptosis Flexion contracture Muscle weakness Growth delay Cutis laxa Bladder diverticulum Cleft palate Narrow chest Wide nasal bridge Hypertelorism Scoliosis Joint hyperflexibility Hyperextensible skin

Rare Symptoms - Less than 30% cases

Brachycephaly Pectus carinatum Blepharophimosis Feeding difficulties in infancy Jaundice Cryptorchidism Genu valgum Dilatation Umbilical hernia Microtia Osteopenia Clinodactyly of the 5th finger Ventricular septal defect Abnormality of the dentition Anteverted nares Pectus excavatum Hip dislocation Narrow mouth Venous insufficiency Abnormality of the foot Long nose Pulmonic stenosis Wormian bones Chronic diarrhea Abnormality of the face Delayed skeletal maturation Congestive heart failure Respiratory distress Brachydactyly Pain Short metacarpal Exostoses Bicuspid aortic valve Hypothermia Tetraparesis Atypical scarring of skin Prominent occiput Short palm Coarse hair Triangular face Bulbous nose Short palpebral fissure Depressed nasal bridge Hearing impairment Shock Elevated serum creatine phosphokinase Severe short stature Posteriorly rotated ears Malar flattening Kyphoscoliosis Interphalangeal joint contracture of finger Adducted thumb Multiple joint dislocation Blue sclerae Joint dislocation Limited elbow extension Rhizomelia Midface retrusion Depressivity Strabismus Diarrhea Recurrent fractures Premature skin wrinkling Intellectual disability, severe Behavioral abnormality Generalized joint laxity Bowing of the long bones Sparse scalp hair Abnormality of the metaphysis Choreoathetosis Enlarged metaphyses Broad distal phalanges of all fingers Prominent antitragus Progressive neurologic deterioration Spatulate thumbs Hypertropia Thickened skin Mask-like facies Osteomyelitis Abnormality of the abdominal wall Lumbar scoliosis Knee dislocation Myopathic facies Cerebral hemorrhage Metaphyseal widening Accessory carpal bones Talipes equinovalgus Intracranial hemorrhage Shoulder dislocation Abnormal palate morphology Intellectual disability, profound Spastic tetraparesis Fine hair Neurodegeneration Generalized-onset seizure Pelvic girdle muscle weakness Malignant hyperthermia Fetal akinesia sequence Nemaline bodies Bulbar signs Dementia Type 1 muscle fiber predominance Spasticity Respiratory insufficiency due to muscle weakness Dysarthria Intrauterine growth retardation Fatigue Cerebellar atrophy Tarsal synostosis Hypertonia Easy fatigability Congenital hip dislocation Gastrointestinal hemorrhage Dry skin Chorea Metacarpophalangeal joint hyperextensibility Full cheeks Sepsis Hypopigmentation of the skin Cerebral atrophy Bilateral elbow dislocations Hypoglycemia Myopathy Nausea and vomiting Malabsorption Muscle stiffness Severe global developmental delay Sparse hair Developmental regression Opisthotonus Scarring Prolonged neonatal jaundice Abnormality of the wrist Gastroparesis Aplastic clavicle Thick hair Femoral hernia Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Broad ribs Esophagitis Abnormality of the sense of smell Down-sloping shoulders Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Short clavicles Acute kidney injury Short humerus Dislocated radial head Keloids Absent tibia Orthostatic hypotension Persistent open anterior fontanelle Lymphadenopathy Recurrent infections Immunodeficiency Neoplasm Humerus varus Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Limited knee extension Synostosis of joints Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Large iliac wings Broad clavicles Long neck Osteomalacia Delayed cranial suture closure Hypopigmentation of hair Metaphyseal spurs Gastroesophageal reflux High forehead Renal insufficiency Kyphosis Intellectual disability, mild Dysphagia Skeletal muscle atrophy Therapeutic abortion Abnormal carotid artery morphology Abnormality of the pinna Hypocupremia Spontaneous hematomas Arterial stenosis Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Abnormality of lipid metabolism Hydronephrosis Deep palmar crease Rickets Recurrent urinary tract infections Bilateral ptosis Redundant skin Poor suck Osteolysis Coxa vara Coxa valga Narrow face Dental crowding Large fontanelles Cholestasis Dolichocephaly Hepatitis Cerebral calcification Convex nasal ridge Hip dysplasia High, narrow palate Bruising susceptibility Joint hypermobility Long face Platyspondyly Endocardial fibroelastosis Hypermetropia Small face Bifid uvula Atrioventricular canal defect Scrotal hypoplasia Widely spaced teeth Bilateral single transverse palmar creases Sparse and thin eyebrow Hypsarrhythmia Sloping forehead Prominent nose Thin vermilion border Stenosis of the external auditory canal Smooth philtrum Proteinuria Retrognathia Polyhydramnios Hypothyroidism Recurrent respiratory infections Patent ductus arteriosus Abnormality of cardiovascular system morphology Submucous cleft hard palate Abnormality of the antihelix Atrial septal defect Arrhythmia Inability to walk Tachycardia Facial asymmetry Toe syndactyly Broad forehead Paralysis Thin upper lip vermilion Gait ataxia Clinodactyly Hypoplasia of teeth Syndactyly Ataxia Abnormality of the cheek Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Short nose Optic atrophy Short foot Emotional lability Macrocephaly Hepatomegaly Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Overweight High myopia Skeletal dysplasia Skin rash Camptodactyly of finger Intellectual disability, moderate Aggressive behavior Arthralgia Myopia Visual impairment Sensorineural hearing impairment Thrombocytopenia Hepatosplenomegaly Epicanthus Protruding tongue Feeding difficulties Unexplained fevers Diaphyseal dysplasia Anterior pituitary hypoplasia Toenail dysplasia Beaking of vertebral bodies Broad neck Amelogenesis imperfecta Metaphyseal dysplasia Elevated hepatic transaminase Epiphyseal dysplasia Sacral dimple Hoarse voice Postnatal microcephaly Depressed nasal ridge Waddling gait Growth hormone deficiency Abnormality of the cerebral white matter Small hand Delayed eruption of teeth Generalized osteoporosis Esotropia Abnormal lung morphology Mitral regurgitation Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Mitral valve prolapse Microdontia Webbed neck Thick eyebrow Amblyopia Flat face Arachnodactyly Talipes Abnormal cardiac septum morphology Proptosis Cerebral cortical atrophy Glaucoma Prominent forehead Left ventricular hypertrophy Lymphedema Hydrocephalus Thoracic hypoplasia 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Bilateral talipes equinovarus Meningitis Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Patent foramen ovale Sandal gap Accelerated skeletal maturation Microretrognathia Elbow flexion contracture Abnormal heart morphology Short neck Hypoplasia of the maxilla Scapular winging Preauricular pit Myotonia Hypokalemia Short metatarsal Growth abnormality Ventricular arrhythmia Oligodontia Ventricular tachycardia Short chin Loss of consciousness Cardiac arrest Short phalanx of finger Decreased body weight Hypoplasia of dental enamel Palpitations Renal hypoplasia Coarctation of aorta Syncope 2-3 toe syndactyly High pitched voice Frontal bossing Toe clinodactyly Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Delayed eruption of permanent teeth Hyperkalemia Persistence of primary teeth Periodic paralysis Scaphocephaly Hyperthyroidism Abnormal heart valve morphology Slender long bone Agenesis of permanent teeth Prolonged QT interval Abnormality of immune system physiology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Dolichocephaly, related diseases and genetic alterations Myopathy and Cholestasis, related diseases and genetic alterations High palate and Sparse and thin eyebrow, related diseases and genetic alterations Spasticity and Lactic acidosis, related diseases and genetic alterations Microcephaly and Recurrent urinary tract infections, related diseases and genetic alterations Seizures and Progressive hearing impairment, related diseases and genetic alterations