Fever, and Intellectual disability, profound

Diseases related with Fever and Intellectual disability, profound

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


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

High match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

High match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

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Other less relevant matches:

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 CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


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

High match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

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

Medium match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS


Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1|gefs+|gefs+, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Fever
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Medium match EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC


Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Fever
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC

Top 5 symptoms//phenotypes associated to Fever and Intellectual disability, profound

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Fever and Intellectual disability, profound. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Intellectual disability, severe Cerebellar atrophy Scoliosis Failure to thrive Hypertelorism Abnormal facial shape Spasticity Strabismus Nystagmus Status epilepticus Feeding difficulties in infancy Micrognathia Developmental regression Growth delay Encephalopathy Cerebral cortical atrophy Hypertonia Autistic behavior Muscular hypotonia Postnatal microcephaly Diarrhea Hearing impairment Intrauterine growth retardation Generalized-onset seizure Glaucoma High palate Short neck Autism Hip dislocation Long philtrum Atonic seizures Motor delay Vomiting Behavioral abnormality Kyphosis Inguinal hernia Hypopigmentation of the skin Cryptorchidism Feeding difficulties Generalized tonic-clonic seizures Severe global developmental delay Thrombocytopenia Generalized myoclonic seizures Tetraplegia Cerebral atrophy Recurrent infections

Rare Symptoms - Less than 30% cases


Coarse hair Astigmatism Short nose Abnormality of movement Febrile seizures Wide mouth Hypertension Gastroesophageal reflux Deeply set eye EEG abnormality Hypoplasia of the corpus callosum Mandibular prognathia Epileptic spasms Depressed nasal bridge Hyperactivity Brachycephaly Constipation Optic atrophy Sleep disturbance Cataract Abnormal cerebellum morphology Ptosis Sleep-wake cycle disturbance Dementia Malabsorption Absence seizures Epileptic encephalopathy Muscle weakness Cutaneous photosensitivity Self-injurious behavior Premature birth Flexion contracture Talipes equinovarus Neurodegeneration Epicanthus Wide nasal bridge Abnormality of the face Fine hair Absent speech Spastic tetraplegia Abnormal form of the vertebral bodies Myopia Focal-onset seizure Spastic tetraparesis Hyperreflexia Cardiomyopathy Prolonged neonatal jaundice Micropenis Petechiae Cerebellar hypoplasia Microphthalmia Encephalitis Renal insufficiency Cerebral palsy Breech presentation Anteverted nares Jaundice Ventriculomegaly Cerebral calcification Peripheral demyelination Brain atrophy Anemia Skin rash Low-set ears Muscular hypotonia of the trunk Elevated hepatic transaminase Hepatosplenomegaly Mask-like facies Atrophy/Degeneration affecting the brainstem Hypopigmentation of hair Tetraparesis Hepatomegaly Sensorineural hearing impairment Pneumonia Opacification of the corneal stroma Dilatation Hypoglycemia Splenomegaly Abnormality of the kidney Corneal opacity Gliosis Scrotal hypoplasia Multicystic kidney dysplasia Optic nerve hypoplasia Hyperbilirubinemia Unilateral renal agenesis Abnormality of dental enamel Short toe Abnormality of the metacarpal bones Holoprosencephaly Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Proximal placement of thumb Precocious puberty Abnormal dermatoglyphics Bifid scrotum Reduced number of teeth Hypercholesterolemia Hammertoe Clitoral hypertrophy Abnormality of the urinary system Poor suck Pyloric stenosis Hyponatremia Aplasia/Hypoplasia of the abdominal wall musculature Short thumb Abnormal heart morphology Low-set, posteriorly rotated ears Intellectual disability, moderate Aggressive behavior Hydronephrosis Skeletal dysplasia Retrognathia Polyhydramnios Proptosis Polydactyly Upslanted palpebral fissure Posteriorly rotated ears Severe short stature Patent ductus arteriosus Finger syndactyly Hypospadias Abnormality of cardiovascular system morphology Syndactyly Edema Atrial septal defect Hydrocephalus Ventricular septal defect Downslanted palpebral fissures Brachydactyly Cleft palate Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Attention deficit hyperactivity disorder Toe syndactyly Gingival overgrowth Hypoplasia of penis Rhizomelia Amblyopia Dental crowding Aganglionic megacolon Abnormality of the genital system Split hand Choanal atresia Recurrent otitis media Renal hypoplasia Abnormality of the ribs Coarctation of aorta Congenital diaphragmatic hernia Decreased fetal movement Ambiguous genitalia Micromelia Eczema Narrow forehead Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Wide intermamillary distance Renal agenesis Webbed neck Intestinal malrotation Renal cyst Iris coloboma Postaxial polydactyly Pulmonary hypoplasia Oligohydramnios Tracheal stenosis Aplasia/Hypoplasia of the cerebellum Dry skin Venous insufficiency Gastrointestinal hemorrhage Arterial stenosis Spontaneous hematomas Multiple joint dislocation Chorea Hypocupremia Full cheeks Sepsis Abnormal carotid artery morphology Recurrent fractures Joint hyperflexibility Progressive neurologic deterioration Narrow chest Metaphyseal spurs Nausea and vomiting Sparse hair Joint laxity Umbilical hernia Osteoporosis Pectus excavatum Hernia Fatigue Dysarthria Elevated 7-dehydrocholesterol Trichorrhexis nodosa Bladder diverticulum Facial capillary hemangioma Cerebral hemorrhage Chondrocalcinosis Pili torti Woolly hair Hypothermia Atypical scarring of skin Exostoses Abnormality of lipid metabolism Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Metaphyseal widening Sparse scalp hair Intracranial hemorrhage Hyperextensible skin Abnormal palate morphology Shock Cutis laxa Joint dislocation Wormian bones Thickened skin Chronic diarrhea Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Abnormality of limbs Opsoclonus Abnormality of dental morphology Epiphyseal stippling Excessive daytime somnolence Sclerocornea Severe failure to thrive Microglossia Male pseudohermaphroditism Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Abnormal eyelash morphology Severe intrauterine growth retardation Abnormal lung lobation Aplasia/Hypoplasia of the radius Overlapping fingers Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency 2-3 toe syndactyly Overlapping toe Metatarsus adductus Cutis marmorata Sex reversal Bifid tongue Severe photosensitivity Increased nuchal translucency Alveolar ridge overgrowth Septate vagina Abnormality of the gallbladder Hypoplasia of the frontal lobes Periventricular gray matter heterotopia Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Mesomelic short stature Broad alveolar ridges Gastroschisis Ectopic calcification Bicornuate uterus Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Moyamoya phenomenon Therapeutic abortion Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Premature arteriosclerosis Stage 5 chronic kidney disease Abnormal immunoglobulin level Keratoconus Happy demeanor Moderate global developmental delay Profound global developmental delay Short attention span Fair hair Blue irides Progressive gait ataxia Overweight Drowsiness Protruding tongue Polyphagia Inappropriate laughter Albinism Flat occiput Incoordination Hyperkinesis Drooling Widely spaced teeth Intellectual disability, progressive Aspiration Exotropia Clumsiness Limb tremor Large foramen magnum Overgrowth Blepharophimosis Spina bifida occulta Knee flexion contracture Joint contracture of the hand Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Flat face Talipes Arthrogryposis multiplex congenita Small for gestational age Postnatal growth retardation Tongue thrusting Camptodactyly Telecanthus Arthritis Kyphoscoliosis Narrow mouth Prominent forehead Malar flattening Myopathy Anisometropia Paroxysmal bursts of laughter Broad-based gait Macroglossia Nasal speech Dystonia Systemic lupus erythematosus Poor head control Leukoencephalopathy Leukodystrophy Progressive microcephaly Abnormality of extrapyramidal motor function Hepatitis Abnormality of the cerebral white matter Irritability Agenesis of corpus callosum Abnormality of the skeletal system Congenital glaucoma EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Cerebral hypomyelination Generalized tonic seizures CNS hypomyelination Hypsarrhythmia Dyskinesia Spastic paraplegia Tremor Spastic diplegia Basal ganglia calcification Hypoplasia of the maxilla Deep white matter hypodensities Falls Infertility Hypermetropia Neurological speech impairment Anxiety Gait ataxia Obesity Macrocephaly Ataxia Increased CSF interferon alpha Chronic CSF lymphocytosis Episodic fever Chilblains CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Acrocyanosis Progressive encephalopathy Adducted thumb Pterygium Abnormal T cell morphology Chronic kidney disease Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Reduced bone mineral density Steatorrhea Azoospermia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal lung morphology Lumbar hyperlordosis Nephrotic syndrome Hypermelanotic macule Multiple cafe-au-lait spots Decreased testicular size Dentinogenesis imperfecta Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Subvalvular aortic stenosis Glomerulopathy Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Microdontia Waddling gait Rheumatoid arthritis Ulnar deviation of the hand or of fingers of the hand Sloping forehead Neuronal loss in central nervous system Polymicrogyria Congenital cataract Abnormality of the liver Hypertrophic cardiomyopathy Visual impairment Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Abnormal auditory evoked potentials Decreased liver function Flexion contracture of toe Overbite Dimple chin Trismus Malignant hyperthermia Distal arthrogryposis Hip contracture Rocker bottom foot Hypoplasia of the brainstem Congenital contracture Pachygyria Cerebral visual impairment Lymphoma Proteinuria Migraine Neutropenia Nephropathy Bulbous nose Abnormality of skin pigmentation Platyspondyly Stroke Autoimmunity Scarring Hyperlordosis Thin upper lip vermilion Microretrognathia Osteopenia Hypothyroidism Headache Immunodeficiency Abnormality of the dentition Congestive heart failure Cognitive impairment Congenital microcephaly Increased CSF protein Lissencephaly Purpura Focal impaired awareness seizure



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