Fever, and Retinal dystrophy

Diseases related with Fever and Retinal dystrophy

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

Top matches:

Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge
  • Fever


SOURCES: OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Other less relevant matches:

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low 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

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM 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

Top 5 symptoms//phenotypes associated to Fever and Retinal dystrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Rod-cone dystrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Retinal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Intellectual disability Hypertelorism Muscular hypotonia Ataxia Failure to thrive Cataract Hepatomegaly Anemia Abdominal pain Neoplasm Short stature Thrombocytopenia Splenomegaly Abnormality of the liver Malabsorption Vomiting Constipation Nystagmus Generalized hypotonia Depressivity Optic atrophy Myopathy Cerebral cortical atrophy Skin rash Encephalopathy Leukocytosis Fatigue Sensorineural hearing impairment Hearing impairment Ptosis Abnormal facial shape Feeding difficulties Growth delay Respiratory distress Hyperhidrosis Peripheral neuropathy Headache

Rare Symptoms - Less than 30% cases

EEG abnormality Recurrent pneumonia Congestive heart failure Generalized myoclonic seizures High palate Hypogonadism Renal insufficiency Hypopigmented skin patches Conjunctivitis Gastroesophageal reflux Arthritis Hypertrophic cardiomyopathy Sepsis Short neck Weight loss Dementia Amenorrhea Pneumonia Erythema Dilatation Ventricular hypertrophy Myalgia Postnatal growth retardation Cardiomyopathy Cognitive impairment Epicanthus Intestinal obstruction Myoclonus Apnea Dysmetria Paresthesia Polyneuropathy Posterior subcapsular cataract Increased serum lactate Involuntary movements Abnormality of the pinna Decreased body weight Hyperkinesis Purpura Osteoporosis Nephrotic syndrome Hyporeflexia Dystonia Migraine Ventriculomegaly Abdominal distention Nausea Tremor Vertigo Strabismus Scoliosis Blindness Left ventricular hypertrophy Flexion contracture Nyctalopia Cerebellar atrophy Lymphadenopathy Leukemia Low-set, posteriorly rotated ears Elevated hepatic transaminase Hepatosplenomegaly Arthralgia Kyphoscoliosis Acidosis Posteriorly rotated ears Elevated serum creatine phosphokinase Obesity Cerebral atrophy Edema Downslanted palpebral fissures Low-set ears Malignant hyperthermia Abnormality of the coagulation cascade Reduced tendon reflexes Abnormality of retinal pigmentation Chronic diarrhea Abnormality of movement Gait disturbance Visual impairment Dysphagia Depressed nasal bridge Lactic acidosis Delayed skeletal maturation Cerebellar hypoplasia Triangular face Aciduria Clumsiness Delayed puberty Proteinuria Pancreatitis Macular degeneration Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism Pruritus EMG abnormality Motor delay Truncal ataxia Anxiety Cardiac arrest Hypertension Clonus Cerebral visual impairment Hyperreflexia Hallucinations Gingival overgrowth Anorexia Dysarthria Mental deterioration Ragged-red muscle fibers External ophthalmoplegia Nasogastric tube feeding Protruding ear Attention deficit hyperactivity disorder Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Decreased nerve conduction velocity Stroke Cachexia Atrioventricular block Neurological speech impairment Dilated cardiomyopathy Hypertrichosis Chronic kidney disease Preductal coarctation of the aorta Growth abnormality Easy fatigability Goiter Schizophrenia Postductal coarctation of the aorta Mutism Ischemic stroke Muscle weakness Skeletal muscle atrophy Psychosis Hemiparesis Coma Kyphosis Sensory impairment Sudden cardiac death Arthrogryposis multiplex congenita Abnormal cerebellum morphology Muscle cramps Postural instability Visual loss Ophthalmoplegia Congenital cataract Hip dysplasia Arrhythmia Nephropathy Areflexia Carious teeth Nausea and vomiting Hirsutism Polymicrogyria Peripheral axonal neuropathy Ichthyosis Confusion Memory impairment Specific learning disability Atrial fibrillation Jaundice Anal atresia Status epilepticus Respiratory insufficiency Abnormality of the dentition Pulmonary arterial hypertension Hypertonia Photophobia Type II diabetes mellitus Generalized tonic-clonic seizures Dyspnea Cerebral calcification Hypothyroidism Lethargy Autism Feeding difficulties in infancy Gait ataxia Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Diabetes mellitus Developmental regression Neonatal hypoglycemia Hypercalciuria 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 Spontaneous hematomas Edema of the dorsum of hands Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Abnormal mitochondrial morphology Cochlear malformation Speech apraxia Clinodactyly of the 5th finger Large fleshy ears Horizontal eyebrow Abnormality of brain morphology Congenital stationary night blindness Underdeveloped supraorbital ridges Congenital hypothyroidism Narrow forehead Round face Tapered finger Downturned corners of mouth Synophrys Thin upper lip vermilion Brachycephaly Intellectual disability, severe Progressive night blindness Hypoplasia of the corpus callosum Wide nasal bridge Prominent ear helix 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 Retinal pigment epithelial atrophy Left ventricular failure Bilateral ptosis Bundle branch block Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Thyroiditis Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Rhabdomyolysis Abnormality of immune system physiology Seborrheic dermatitis Delusions 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 Facial diplegia Cardiorespiratory arrest Transient ischemic attack Primary adrenal insufficiency Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Juvenile myelomonocytic leukemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Loose anagen hair Abnormal heart morphology Panuveitis Myelopathy Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Difficulty walking Agammaglobulinemia Glossoptosis Bronchitis Cellulitis Osteomyelitis Chronic otitis media Rheumatoid arthritis Encephalitis Recurrent skin infections Recurrent bacterial infections Hypocalcemia Recurrent respiratory infections Abnormality of the eye Lymphopenia Decreased liver function Action tremor Blepharitis Restlessness Axonal loss Muscle fibrillation Anhidrosis Oral-pharyngeal dysphagia Sleep apnea Cone/cone-rod dystrophy Coxa valga Aspiration Postnatal microcephaly Respiratory tract infection Choreoathetosis Apraxia Delayed myelination Gliosis Recurrent fractures Single transverse palmar crease Short foot Small hand Joint hypermobility Abnormality of eye movement Corneal opacity Scarring Meningitis Skin ulcer Alacrima Abetalipoproteinemia Large fontanelles Blue sclerae Underdeveloped nasal alae Nevus Progressive cerebellar ataxia Metabolic acidosis Dolichocephaly Abnormality of the nervous system Hypoglycemia Steatocystoma multiplex Increased HDL cholesterol concentration Decreased LDL cholesterol concentration Severe failure to thrive Hypocholesterolemia Fat malabsorption Acanthocytosis Renal cell carcinoma Peripheral demyelination Hepatic steatosis Hepatic failure Retinal degeneration Carcinoma Cold-induced sweating Full cheeks Camptodactyly Petechiae Nuclear cataract Sinusitis Immunodeficiency Telangiectasia Recurrent urinary tract infections Abnormal lung morphology Hepatitis Otitis media Decreased antibody level in blood Neutropenia Retinopathy Autoimmunity Alopecia Recurrent infections Delayed speech and language development Organic aciduria Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Pain insensitivity Elevated alpha-fetoprotein Neurofibrosarcoma Coarctation of aorta Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Lymphedema Amblyopia Primary amenorrhea Low posterior hairline Wide intermamillary distance Patent foramen ovale Webbed neck Dental malocclusion Abnormal bleeding High, narrow palate Bruising susceptibility Facial asymmetry Pulmonic stenosis Hypotrichosis Broad forehead Abnormal cardiac septum morphology Sparse hair Failure to thrive in infancy Myelodysplasia Proptosis Restrictive cardiomyopathy Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Atrial flutter Cubitus valgus Nonimmune hydrops fetalis Drusen Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Radial deviation of finger Polyhydramnios Patent ductus arteriosus Decreased sensory nerve conduction velocity Gastrointestinal hemorrhage Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Apathy Urticaria Vasculitis Long eyelashes Optic disc pallor Eczema Dehydration Limitation of joint mobility Episodic fever Infertility Papule Cough Pallor Frontal bossing Decreased CSF/serum albumin ratio Decreased CSF albumin Decreased CSF 5-hydroxyindolacetic acid High myoinositol in brain by MRS Intrinsic hand muscle atrophy Perivascular spaces Corneal ulceration Subcapsular cataract Uveitis Clinodactyly Serositis Pectus excavatum Hernia Abnormality of cardiovascular system morphology Intellectual disability, mild Atrial septal defect Ventricular septal defect Myopia Brachydactyly Cryptorchidism Micrognathia Pharyngitis Cervical lymphadenopathy Peripheral visual field loss Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Poor coordination Multifocal cerebral white matter abnormalities


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