Fever, and Myopia

Diseases related with Fever and Myopia

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Medium match HYPERTRYPTOPHANEMIA

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

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

Other less relevant matches:

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

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

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

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

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

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

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

Top 5 symptoms//phenotypes associated to Fever and Myopia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Vomiting

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Gastroesophageal reflux Constipation Low-set ears Pain Behavioral abnormality Strabismus Feeding difficulties Short neck Microcephaly Ataxia Hypertension Muscular hypotonia Scoliosis Micrognathia Autism Ptosis Autistic behavior Depressivity Small hand High palate Feeding difficulties in infancy Hypermetropia Broad forehead Anemia Hyperactivity Wide mouth Thin upper lip vermilion Clinodactyly Hyperhidrosis Malar flattening Corneal opacity Hypertelorism Recurrent fractures Malignant hyperthermia Astigmatism Sensorineural hearing impairment Motor delay Flexion contracture Abnormal autonomic nervous system physiology

Rare Symptoms - Less than 30% cases

Encephalopathy Frontal bossing Kyphosis Cerebellar atrophy Intellectual disability, severe Nystagmus Episodic fever Cryptorchidism Inguinal hernia Abnormal cerebellum morphology Cubitus valgus Brachycephaly Gait ataxia Paroxysmal bursts of laughter Short attention span EEG abnormality Polyphagia Self-injurious behavior Widely spaced teeth Clumsiness Focal-onset seizure Sleep disturbance Intellectual disability, profound Cardiomyopathy Short nose Headache Platyspondyly Talipes Decreased testicular size Lumbar hyperlordosis Bowing of the long bones Elbow flexion contracture Recurrent infections Metaphyseal widening Congestive heart failure Apnea Myotonia High pitched voice Flexion contracture of toe Temperature instability Talipes valgus Pursed lips Smooth tongue Cognitive impairment Camptodactyly Skeletal dysplasia Depressed nasal bridge Multiple lentigines Postnatal growth retardation Patent foramen ovale Facial asymmetry Bulbous nose Generalized hirsutism Cataract Glomerulopathy Patent ductus arteriosus Azoospermia Osteopenia Opacification of the corneal stroma Dysphagia Abnormality of the skeletal system Talipes equinovarus Respiratory distress Midface retrusion Osteoporosis Thrombocytopenia Kyphoscoliosis Impaired pain sensation Proptosis Hyporeflexia Overweight Short foot Broad-based gait Glomerulosclerosis Incoordination Peripheral neuropathy EMG abnormality Optic atrophy Emotional lability Low-set, posteriorly rotated ears Visual impairment Adducted thumb Diarrhea Abnormality of the kidney Pes planus Aggressive behavior Renal insufficiency Hyperlordosis Delayed speech and language development Anxiety Brachydactyly Edema Hearing impairment Abnormality of skin pigmentation Posteriorly rotated ears Atrial septal defect Visual loss Congenital contracture Mask-like facies Respiratory insufficiency Lateral displacement of the femoral head Flared metaphysis Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Femoral bowing Tibial bowing Moyamoya phenomenon Hypokinesia Abnormal immunoglobulin level Arthritis Pulmonary hypoplasia Respiratory failure Encephalomalacia Paraparesis Aminoaciduria Narrow face Abnormality of dental enamel Hoarse voice Sensorimotor neuropathy Spastic paraparesis Short phalanx of finger Hepatic failure Nasal speech Thin skin Short palpebral fissure Pulmonary arterial hypertension Decreased fetal movement Limb undergrowth Single transverse palmar crease Knee flexion contracture Abnormal T cell morphology Orthostatic hypotension Increased thyroid-stimulating hormone level Bone marrow hypocellularity Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Nyctalopia Hyperlipidemia Atherosclerosis Lymphopenia Focal segmental glomerulosclerosis Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Nephrotic syndrome Microdontia Waddling gait Lymphoma Premature birth Migraine Spondyloepiphyseal dysplasia Emphysema Shallow acetabular fossae Cerebral ischemia Steroid-resistant nephrotic syndrome Pallor Thin ribs Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Combined immunodeficiency Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Pathologic fracture Multiple skeletal anomalies Ulnar deviation of finger Failure to thrive in infancy Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Elevated alkaline phosphatase Gonadal dysgenesis Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Primary amenorrhea Low posterior hairline Abnormality of blood and blood-forming tissues Arnold-Chiari type I malformation Coarctation of aorta Superior pectus carinatum Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Amegakaryocytic thrombocytopenia Drusen Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Ventricular hypertrophy Amenorrhea Short tibia Hypoplastic iliac body Epicanthus Neoplasm Metaphyseal rarefaction Pulmonary arterial medial hypertrophy Blotching pigmentation of the skin Abnormal metaphyseal trabeculation Absent patellar reflexes Broad ischia Shivering Increased upper to lower segment ratio Contracture of the proximal interphalangeal joint of the 5th finger Ventricular septal defect Elevated pulmonary artery pressure Mitochondrial respiratory chain defects Square face Gliosis Thickened cortex of long bones Broad long bones Wide nasal base Ulnar deviation of the hand Enlarged joints Megaloblastic anemia Downslanted palpebral fissures Intellectual disability, mild Wide intermamillary distance Abnormal cardiac septum morphology Webbed neck Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Bruising susceptibility Pulmonic stenosis Hypotrichosis Leukemia Sparse hair Splenomegaly Hypertrophic cardiomyopathy Polyhydramnios Abdominal pain Hypogonadism Rod-cone dystrophy Abnormal heart morphology Pectus excavatum Hernia Abnormality of cardiovascular system morphology Dilatation Brain atrophy Pneumonia Neutropenia Drooling Epileptic spasms Drowsiness Protruding tongue Atonic seizures Keratoconus Gait disturbance Albinism Flat occiput Hyperkinesis Cerebral palsy Blue irides Intellectual disability, progressive Aspiration Exotropia Postnatal microcephaly Abnormality of the face Areflexia Status epilepticus Generalized-onset seizure Overgrowth Recurrent respiratory infections Progressive gait ataxia Fair hair Hypoplasia of the maxilla Clinodactyly of the 5th finger Downturned corners of mouth Short palm Thick eyebrow Anteverted nares Synophrys Microtia Protruding ear Coarse facial features Retrognathia Attention deficit hyperactivity disorder Profound global developmental delay Small nail Obsessive-compulsive behavior Anisometropia Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Happy demeanor Moderate global developmental delay Macroglossia Hypopigmentation of the skin Highly arched eyebrow Abnormal renal physiology Neuropathic arthropathy Decreased taste sensation Decreased corneal reflex Corneal ulceration Decerebrate rigidity Increased blood urea nitrogen Alacrima Abnormality of the pleura Decreased number of large peripheral myelinated nerve fibers Abnormal pupil morphology Episodic hyperhidrosis Recurrent corneal erosions Hypoxemia Corneal erosion Heterochromia iridis Elevated serum creatinine Acrocyanosis Hyponatremia Aseptic necrosis Epiphora Anhidrosis Abnormality of the peritoneum Episodic hypertension Nausea and vomiting Cerebral cortical atrophy Falls Unsteady gait Infertility Abnormality of movement Neurological speech impairment Deeply set eye Nausea Mandibular prognathia Tachycardia Sensory neuropathy Recurrent infections due to aspiration Sensory impairment Hypotension Obesity Absent speech Peripheral demyelination Hypohidrosis Macrocephaly Hyperreflexia Osteolysis Decreased sensitivity to hypoxemia Everted lower lip vermilion Prominent nose Nephropathy Wrist flexion contracture Generalized muscle hypertrophy Shoulder flexion contracture Elliptocytosis Percussion myotonia Decreased mean corpuscular volume Epiretinal membrane Decreased serum iron Spinal deformities Weak voice Hypoplasia of the musculature Abnormality of femoral epiphysis Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Hip contracture Ring scotoma Skeletal muscle hypertrophy Photoreceptor layer loss on macular OCT Overfolded helix Sleep apnea Narrow palpebral fissure Retinal pigment epithelial atrophy Long eyelashes in irregular rows Coxa valga Dementia Stage 5 chronic kidney disease Malabsorption Hip dislocation Stroke Autoimmunity Scarring Developmental regression Proteinuria Hypothyroidism Agitation Anterior bowing of long bones Optic disc pallor Rheumatoid arthritis Retinal atrophy Immunodeficiency Abnormality of the dentition Anisocytosis Macular edema Intrauterine growth retardation Juvenile rheumatoid arthritis Poikilocytosis Coxa vara Congenital hip dislocation Esotropia Sandal gap Muscle weakness Abnormality of lower lip Hemifacial hypoplasia Macrodontia Cupped ear Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Absence seizures Head-banging Short chin Finger clinodactyly Low anterior hairline Stereotypy Dental crowding Open mouth Hypoplasia of penis Epileptic encephalopathy Hip dysplasia Febrile seizures Skeletal muscle atrophy Tryptophanuria Arthralgia High myopia Joint contracture of the hand Joint laxity Full cheeks Microcornea Flat face Intellectual disability, moderate Camptodactyly of finger Pectus carinatum Blepharophimosis Skin rash Rigidity Hypersexuality Umbilical hernia Interphalangeal joint contracture of finger Limited elbow extension Narrow mouth Severe short stature Delayed skeletal maturation Generalized joint laxity Myopathy Mood swings Stuttering Postductal coarctation of the aorta


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