Fever, and Astigmatism

Diseases related with Fever and Astigmatism

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

Top matches:

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

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

Other less relevant matches:

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

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

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

Top 5 symptoms//phenotypes associated to Fever and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Behavioral abnormality

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Vomiting

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Hearing impairment Hypertelorism Microcephaly Generalized hypotonia Gastroesophageal reflux Ataxia Anemia Abnormality of the kidney Autistic behavior Delayed speech and language development Autism High palate Thin upper lip vermilion Low-set ears Hyperactivity Ptosis Thrombocytopenia Constipation Micrognathia Feeding difficulties Atrial septal defect Hip dislocation Retrognathia Clinodactyly of the 5th finger Hypertension Abnormality of skin pigmentation Headache Cryptorchidism Intrauterine growth retardation Visual impairment Hypothyroidism Renal insufficiency Self-injurious behavior Sleep disturbance Incoordination Widely spaced teeth Short neck Feeding difficulties in infancy Aggressive behavior Inguinal hernia Nystagmus Sensorineural hearing impairment Muscular hypotonia Motor delay Small hand Depressivity Optic atrophy Intellectual disability, severe Hydrocephalus Postnatal growth retardation Abnormal heart morphology Brachycephaly Neoplasm Hypermetropia Wide mouth Bulbous nose Cleft palate

Rare Symptoms - Less than 30% cases

Duodenal stenosis Depressed nasal bridge Pneumonia Cognitive impairment Recurrent infections Cardiomyopathy Immunodeficiency Emotional lability Low anterior hairline Abnormality of the dentition Congestive heart failure Diarrhea Patent ductus arteriosus Pain Proteinuria Spina bifida Hyperlordosis Telecanthus B-cell lymphoma Renal agenesis High, narrow palate Attention deficit hyperactivity disorder High myopia Craniosynostosis Abnormality of the pinna Arthritis Low posterior hairline Umbilical hernia Narrow mouth Posteriorly rotated ears Flexion contracture Ventricular septal defect Hypertonia Microphthalmia Tetralogy of Fallot Short palpebral fissure Autoimmunity Bone marrow hypocellularity Perimembranous ventricular septal defect Corneal opacity Neutropenia Juvenile rheumatoid arthritis Lymphoma Microdontia Choanal atresia Azoospermia Hyperhidrosis Reduced bone mineral density Rheumatoid arthritis Glomerulosclerosis Anteverted nares Short foot Limited elbow extension Multiple cafe-au-lait spots Glomerulopathy Pallor Abnormality of cardiovascular system morphology Highly arched eyebrow Abnormality of the skeletal system Hypopigmentation of the skin Frontal bossing Paroxysmal bursts of laughter Ectopic kidney Proptosis Failure to thrive Abnormal cerebellum morphology Short attention span Focal-onset seizure Overweight Microtia Intellectual disability, profound Abnormality of the urinary system Hypospadias Broad-based gait Severe short stature Polyphagia Hypertrophic cardiomyopathy Exotropia Aspiration Clinodactyly Small for gestational age Toe syndactyly Recurrent urinary tract infections Downturned corners of mouth Hyperreflexia Macrocephaly Cerebellar atrophy Kyphosis Obesity Thick eyebrow Facial asymmetry Vertigo Gait ataxia Mandibular prognathia EEG abnormality Encephalopathy Synophrys Anxiety Broad forehead Pes planus Single transverse palmar crease Type I diabetes mellitus Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Short thumb Camptodactyly Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Wide nasal bridge Talipes equinovarus Leukopenia Long philtrum Syndactyly Pulmonary hypoplasia Hernia Hirsutism Telangiectasia Conductive hearing impairment Abnormal vertebral morphology Hypoglycemia Insulin resistance Pulmonic stenosis Glaucoma Micromelia Cafe-au-lait spot Hypergonadotropic hypogonadism Delayed skeletal maturation Cleft upper lip Prominent forehead Prominent nasal bridge Horseshoe kidney Thin vermilion border Respiratory tract infection Aganglionic megacolon Absent testis Neoplasm of head and neck Abnormal aortic valve morphology Squamous cell carcinoma Hydroureter Absent thumb Myeloid leukemia Acute myeloid leukemia Abnormality of blood and blood-forming tissues Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Reticulocytopenia Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb Arteriovenous malformation External ear malformation Abnormal eyelid morphology Chromosome breakage Hypoplasia of the ulna Glucose intolerance Deficient excision of UV-induced pyrimidine dimers in DNA Abnormality of vision Anemic pallor Cranial nerve paralysis Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Renal hypoplasia/aplasia Almond-shaped palpebral fissure Compensated hypothyroidism Hearing abnormality Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Hypopigmented skin patches Decreased fertility in males Clubbing of toes Abnormal aortic morphology Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Hyperinsulinemia Myelodysplasia Primary hypothyroidism Triphalangeal thumb Abnormality of nervous system morphology Tracheoesophageal fistula Abnormality of the ulna Peters anomaly Tapered finger Gait disturbance Hypohidrosis Peripheral demyelination Hypotension Sensory impairment Recurrent fractures Sensory neuropathy Tachycardia Nausea Unsteady gait Nausea and vomiting Recurrent respiratory infections Hyporeflexia Areflexia Peripheral neuropathy EMG abnormality Obsessive-compulsive behavior Small nail Low-set, posteriorly rotated ears Brachydactyly Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Generalized joint laxity Adducted thumb Interphalangeal joint contracture of finger Skin rash Camptodactyly of finger Abnormal autonomic nervous system physiology Osteolysis Joint laxity Abnormal renal physiology Recurrent infections due to aspiration Episodic hypertension Episodic hyperhidrosis Abnormality of the peritoneum 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 Hyponatremia Recurrent corneal erosions Hypoxemia Corneal erosion Heterochromia iridis Elevated serum creatinine Acrocyanosis Malignant hyperthermia Aseptic necrosis Episodic fever Impaired pain sensation Orthostatic hypotension Agitation Anhidrosis Epiphora Intellectual disability, moderate Arthralgia Delayed eruption of teeth Torticollis Abnormality of digit Opisthotonus 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Pyloric stenosis Short metatarsal Deep philtrum Hypoplasia of the radius Relative macrocephaly Spontaneous abortion Dislocated radial head Elbow flexion contracture Increased body weight Long eyelashes Hypertrichosis Renal hypoplasia Blue sclerae Congenital diaphragmatic hernia Otitis media Webbed neck Vesicoureteral reflux Sepsis Triangular face Renal cyst Microcornea Weak cry Hypoplastic nipples Dysplastic tricuspid valve Supernumerary ribs Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Phocomelia Oligodactyly Hand oligodactyly Short sternum Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Abnormality of the genital system Myelomeningocele Pancytopenia Stage 5 chronic kidney disease Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Lumbar hyperlordosis Nephrotic syndrome Decreased testicular size Waddling gait Premature birth Migraine Brain atrophy Gliosis Nephropathy Malabsorption Abnormality of epiphysis morphology Platyspondyly Stroke Scarring Developmental regression Osteopenia Dementia Abnormality of lower lip Hemifacial hypoplasia Macrodontia Cupped ear Language impairment Focal impaired awareness seizure Heterotopia Lymphopenia Infantile muscular hypotonia Combined immunodeficiency Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Steatorrhea Hypermelanotic macule High pitched voice Opacification of the corneal stroma Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Chronic kidney disease Coarse hair Hyperlipidemia Atherosclerosis Tented upper lip vermilion Sandal gap Dentinogenesis imperfecta Abnormality of the face Epileptic spasms Drowsiness Protruding tongue Atonic seizures Keratoconus Albinism Flat occiput Hyperkinesis Drooling Cerebral palsy Intellectual disability, progressive Postnatal microcephaly Clumsiness Blue irides Status epilepticus Generalized-onset seizure Overgrowth Macroglossia Hypoplasia of the maxilla Falls Infertility Abnormality of movement Neurological speech impairment Deeply set eye Cerebral cortical atrophy Absent speech Progressive gait ataxia Fair hair Absence seizures Everted lower lip vermilion Short chin Finger clinodactyly Generalized hirsutism Stereotypy Dental crowding Open mouth Hypoplasia of penis Epileptic encephalopathy Hip dysplasia Febrile seizures Esotropia Prominent nose Short palm Profound global developmental delay Protruding ear Coarse facial features Malar flattening Short nose Anisometropia Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Happy demeanor Moderate global developmental delay Subvalvular aortic stenosis Cellular immunodeficiency Oligohydramnios Esophoria Macular edema Anisocytosis Retinal atrophy Optic disc pallor Nyctalopia Edema Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Right aortic arch with mirror image branching Retinal pigment epithelial atrophy Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Poikilocytosis Elliptocytosis Graves disease Weight loss Sloping forehead Bruising susceptibility Anal atresia Abnormality of the foot Dolichocephaly Finger syndactyly Leukemia Abnormal cardiac septum morphology Abnormality of the liver Irritability Abnormality of the eye Carcinoma Diabetes mellitus Decreased mean corpuscular volume Upslanted palpebral fissure Hypogonadism Respiratory distress Ventriculomegaly Fatigue Hepatomegaly Epicanthus Cataract Photoreceptor layer loss on macular OCT Ring scotoma Decreased serum iron Epiretinal membrane Interrupted aortic arch Aplasia of the uterus Right ventricular cardiomyopathy Nephrosclerosis Chorea Bifid uvula Hemolytic anemia Iris coloboma Polymicrogyria Generalized tonic-clonic seizures Short philtrum Blepharophimosis Cleft lip Hydronephrosis Hypoplasia of the corpus callosum Lateral displacement of the femoral head Anterior pituitary dysgenesis Amenorrhea Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Specific learning disability Coarctation of aorta Hypoplasia of the thymus Inflammation of the large intestine Anterior segment developmental abnormality Seborrheic dermatitis Tetany Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Acne Primary amenorrhea Unilateral renal agenesis Psoriasiform dermatitis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Purpura Hypocalcemia Amblyopia Broad thumb Renal dysplasia Decreased sensitivity to hypoxemia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Agenesis of corpus callosum, related diseases and genetic alterations Ventricular septal defect and High myopia, related diseases and genetic alterations