Fever, and Intellectual disability, severe

Diseases related with Fever and Intellectual disability, severe

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Other less relevant matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

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

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

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

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). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Cerebral cortical atrophy Abnormal facial shape Focal-onset seizure Cryptorchidism Short stature Strabismus Growth delay Low-set ears Micrognathia Feeding difficulties Ataxia Frontal bossing Short nose Feeding difficulties in infancy Muscular hypotonia Nystagmus Hyperactivity Failure to thrive Hypertelorism Absent speech Status epilepticus Encephalopathy Absence seizures Postnatal microcephaly Constipation Hearing impairment Epileptic encephalopathy Vomiting Cleft palate Tetraplegia Mandibular prognathia Everted lower lip vermilion Falls Generalized tonic-clonic seizures Behavioral abnormality Febrile seizures Intellectual disability, profound Spasticity Esotropia Highly arched eyebrow Widely spaced teeth Hypoplasia of the corpus callosum Scoliosis Motor delay Delayed speech and language development Hyperreflexia Clinodactyly Autism EEG abnormality Aggressive behavior Autistic behavior

Rare Symptoms - Less than 30% cases

Abnormal cerebellum morphology Abnormality of movement Generalized-onset seizure Sleep disturbance Astigmatism Brachycephaly Hypermetropia Neurological speech impairment Wide mouth Posteriorly rotated ears Cleft upper lip Deeply set eye Gastroesophageal reflux Gait ataxia Self-injurious behavior Inguinal hernia Kyphosis Myopia Apnea Drooling Radial deviation of finger Polyphagia Microphthalmia Short palm Postnatal growth retardation Finger clinodactyly Retrognathia Malar flattening Ptosis Cupped ear Aplasia/Hypoplasia of the corpus callosum Pain Sloping forehead Wide nasal bridge Micropenis Epicanthus Renal insufficiency Drowsiness Long philtrum Hypertonia Anteverted nares Ventriculomegaly Visual impairment Syndactyly Open mouth Abnormal heart morphology Agenesis of corpus callosum Tapered finger Paroxysmal bursts of laughter Happy demeanor Dehydration Short attention span Dilatation Anxiety Abnormality of the kidney Cognitive impairment Short chin Hypohidrosis Sparse scalp hair Cerebral hypomyelination Underdeveloped nasal alae Hypoplasia of the maxilla Delayed eruption of teeth Optic atrophy Dystonia CNS hypomyelination Atonic seizures Hyperhidrosis Bruxism Respiratory distress Depressed nasal bridge Episodic fever Brain atrophy Sensorineural hearing impairment Elevated hepatic transaminase Epileptic spasms Cerebellar atrophy Tremor Cerebral atrophy Developmental regression Generalized myoclonic seizures Renal hypoplasia/aplasia Broad columella Broad hallux phalanx Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Mesoaxial hand polydactyly Occipital meningocele Large earlobe Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Flexion contracture Respiratory insufficiency Talipes equinovarus Postaxial polydactyly Irritability Camptodactyly Oral cleft Facial palsy Pes planus Long face Kyphoscoliosis Esodeviation Polyhydramnios Dyspnea Narrow mouth Broad nasal tip Hyporeflexia Renal agenesis Short neck Pulmonary artery sling Prominent nasal tip Polycystic kidney dysplasia Atypical absence seizures Abnormal eye morphology Abnormal retinal morphology Renal dysplasia Molar tooth sign on MRI Abnormality of neuronal migration Oculomotor apraxia Preaxial hand polydactyly Deep plantar creases Bilateral cryptorchidism Generalized muscle hypertrophy Uplifted earlobe Trigonocephaly Tachypnea Hand polydactyly Preaxial polydactyly Tibial bowing Partial agenesis of the corpus callosum Dandy-Walker malformation Accessory oral frenulum Tongue nodules Large basal ganglia Hamartoma of tongue Lobulated tongue Broad eyebrow Abnormal oral frenulum morphology Preaxial foot polydactyly Cerebellar vermis hypoplasia Short femur Meningocele Abnormal morphology of the hippocampus Hamartoma Subglottic stenosis Biparietal narrowing Apraxia Foot polydactyly Pectus carinatum Abnormality of the gastrointestinal tract Recurrent otitis media Facial tics Vesicoureteral reflux Otitis media Tetralogy of Fallot Smooth tongue Coarctation of aorta Fine hair Abnormality of the genital system Iris coloboma Aganglionic megacolon Pointed chin Cutaneous syndactyly Abnormality of the genitourinary system Poor suck Hypernatremic dehydration Pyloric stenosis Bilateral camptodactyly Abdominal distention Pulmonic stenosis Unexplained fevers Depressivity Abnormal cardiac septum morphology Coloboma Telecanthus Hydronephrosis Macrotia High forehead Patent ductus arteriosus Pectus excavatum Hypospadias Abnormality of the cerebral white matter Abnormality of cardiovascular system morphology Diarrhea Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Cold-induced sweating Short philtrum Finger syndactyly Sparse eyebrow Hypopnea Blepharophimosis Sudden cardiac death Submucous cleft hard palate Interphalangeal joint contracture of finger External ear malformation Pulmonary artery stenosis Cyanosis Round face Limitation of joint mobility Full cheeks Abnormal eyebrow morphology Elbow flexion contracture Low hanging columella Wide nose Chronic constipation Carious teeth Dolichocephaly Camptodactyly of finger Tracheal stenosis Attention deficit hyperactivity disorder Recurrent urinary tract infections Adducted thumb Aplasia/Hypoplasia of the cerebellum Malignant hyperthermia Temperature instability Velopharyngeal insufficiency Large face Bifid scrotum Central apnea Trismus Narrow nose Rocker bottom foot Hallux valgus Nasal speech Acute kidney injury Limited elbow extension Ectopic kidney Opisthotonus Disproportionate tall stature Overlapping toe Keratitis Supernumerary nipple Misalignment of teeth Opacification of the corneal stroma Toe syndactyly Absent eyelashes Concave nail Anterior hypopituitarism Conical tooth Heat intolerance Anodontia Taurodontia Soft skin Rhinitis Anhidrotic ectodermal dysplasia Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Anhidrosis Absent eyebrow Brittle hair Prominent supraorbital ridges Absent nipple Hypohidrotic ectodermal dysplasia Sparse eyelashes Macroglossia Intellectual disability, progressive Aspiration Exotropia Abnormality of the face Clumsiness Broad-based gait Overgrowth Hypopigmentation of the skin Abnormal oral mucosa morphology Infertility Obesity Macrocephaly Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Dysphonia Type I diabetes mellitus Hyperkinesis EEG with burst suppression Abnormal pyramidal sign Intrauterine growth retardation Intermittent hyperventilation Hemiclonic seizures Hyperventilation Cutaneous photosensitivity Psychosis Impaired horizontal smooth pursuit Corpus callosum atrophy Infantile encephalopathy Generalized tonic seizures Hypsarrhythmia Spastic tetraplegia Neurodegeneration Dyskinesia Spastic paraplegia Severe global developmental delay Abnormality of eye movement Cerebral white matter atrophy Hoarse voice Thick vermilion border Sparse and thin eyebrow Thin skin Depressed nasal ridge Eczema Microdontia Ectodermal dysplasia Hypodontia Short distal phalanx of finger Hypertension Dry skin Hypotrichosis Sparse hair Respiratory tract infection Prominent forehead Recurrent respiratory infections Immunodeficiency Abnormality of the dentition Cerebral palsy Incoordination Prominent nasal bridge Facial asymmetry Hip dysplasia Prominent nose Short foot Small hand Downturned corners of mouth Thick eyebrow Bulbous nose Synophrys Dental crowding Broad forehead Microtia Protruding ear Thin upper lip vermilion Coarse facial features Clinodactyly of the 5th finger Congenital microcephaly Increased CSF protein Hypoplasia of penis Stereotypy Lissencephaly Brachydactyly Low-set, posteriorly rotated ears Cleft lip Abnormality of the nervous system Conductive hearing impairment Polydactyly Hernia Gait disturbance Abnormality of lower lip Low anterior hairline Hemifacial hypoplasia Macrodontia Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Sandal gap Generalized hirsutism Petechiae Spastic tetraparesis Flat occiput Limb tremor Anemia Cataract Anisometropia Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Moderate global developmental delay Cardiomyopathy Profound global developmental delay Fair hair Blue irides Progressive gait ataxia Overweight Protruding tongue Keratoconus Albinism Hepatomegaly Splenomegaly Purpura Polymicrogyria Microretrognathia Cerebral visual impairment Decreased liver function Pachygyria Tetraparesis Cerebral calcification Neuronal loss in central nervous system Gliosis Congenital cataract Thrombocytopenia Corneal opacity Skin rash Abnormality of the liver Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Hepatosplenomegaly Jaundice Cerebellar hypoplasia Aplasia/Hypoplasia of the cerebral white matter


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