Fever, and Hypermetropia

Diseases related with Fever and Hypermetropia

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

Top matches:

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

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

Other less relevant matches:

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

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

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

Top 5 symptoms//phenotypes associated to Fever and Hypermetropia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Vomiting

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Motor delay Gastroesophageal reflux Autism Hyperactivity Constipation Abnormal facial shape Pain Feeding difficulties Delayed speech and language development Scoliosis Ataxia Micrognathia Low-set ears Hearing impairment Sleep disturbance Autistic behavior Hyporeflexia Microcephaly Polyphagia Emotional lability Depressivity Impaired pain sensation High palate Feeding difficulties in infancy Overweight Midface retrusion Malar flattening Aggressive behavior Thick eyebrow Esotropia Full cheeks Flexion contracture Talipes equinovarus Brachycephaly Osteoporosis Narrow mouth Osteopenia Pes planus Recurrent fractures Hypertension EEG abnormality Ptosis Inguinal hernia Intellectual disability, severe Wide mouth Small hand Short foot Broad-based gait Thin upper lip vermilion Hypertelorism Anxiety Obesity

Rare Symptoms - Less than 30% cases

Frontal bossing Febrile seizures Short chin Atrial septal defect Generalized hirsutism Unsteady gait Nausea and vomiting Dental crowding Encephalopathy Gait ataxia Intellectual disability, moderate Hip dysplasia Hypohidrosis Umbilical hernia Sandal gap Downturned corners of mouth Short palm Temperature instability Bulbous nose Facial asymmetry Recurrent respiratory infections Microtia Protruding ear Anteverted nares Infertility Flat face Infantile muscular hypotonia Acrocyanosis Respiratory distress Kyphoscoliosis Proptosis Joint laxity Pectus carinatum Prominent forehead Delayed skeletal maturation EMG abnormality Abnormal autonomic nervous system physiology Cerebral cortical atrophy Congestive heart failure Neonatal hypotonia Short neck Arachnodactyly Attention deficit hyperactivity disorder Ventricular septal defect Wide nasal bridge Depressed nasal bridge Broad forehead Apnea Abnormality of the pinna Genu valgum Malignant hyperthermia Talipes Dolichocephaly Clinodactyly Clinodactyly of the 5th finger Short nose Albinism Clumsiness Narrow palpebral fissure Sleep apnea Elbow flexion contracture Cognitive impairment Accelerated skeletal maturation Deeply set eye Macrocephaly Bicuspid aortic valve Short attention span Self-injurious behavior Incoordination Narrow nasal bridge Focal-onset seizure Optic atrophy Widely spaced teeth Large hands Skeletal muscle hypertrophy Lymphedema Epicanthus Hypopigmentation of the skin Paroxysmal bursts of laughter Visual impairment Absent speech Astigmatism Hyperhidrosis Cryptorchidism Nystagmus Ventriculomegaly Intellectual disability, mild Sensorineural hearing impairment Tongue thrusting Abnormality of the dentition Diarrhea Gait disturbance Myopathy Edema Kyphosis Cellulitis 2-3 toe syndactyly Weak cry Hypoplastic toenails Palpebral edema Polycystic kidney dysplasia Erysipelas Prominent supraorbital ridges Sacral dimple Recurrent upper respiratory tract infections Nephrolithiasis Recurrent skin infections Poor head control Chronic diarrhea Increased intracranial pressure Abnormality of the outer ear Frontal upsweep of hair Multicystic kidney dysplasia Abnormality of the periventricular white matter Tall stature Cerebral visual impairment Pointed chin Poor eye contact Irritability Disseminated intravascular coagulation Abnormality of skin pigmentation Central adrenal insufficiency Retinal pigment epithelial atrophy Poikilocytosis Juvenile rheumatoid arthritis Macular edema Anisocytosis Retinal atrophy Rheumatoid arthritis Optic disc pallor Nyctalopia Decreased mean corpuscular volume Pallor Arthritis Anemia Hypoplastic labia minora Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Elliptocytosis Epiretinal membrane Long eyelashes Hepatic failure Triangular mouth Renal dysplasia Abnormality of the genital system Hepatitis Dental malocclusion Vesicoureteral reflux Renal cyst High, narrow palate Thick vermilion border Hydronephrosis Decreased serum iron Macrotia Agenesis of corpus callosum Patent ductus arteriosus Recurrent infections Headache Bruxism Immunodeficiency Long philtrum Photoreceptor layer loss on macular OCT Ring scotoma Arachnoid cyst Anhidrosis Heat intolerance Skeletal muscle atrophy Decreased testicular size Microcornea Platyspondyly Blepharophimosis Camptodactyly Rigidity Skeletal dysplasia Severe short stature Abnormality of the skeletal system Dysphagia Cataract Bowing of the long bones Muscle weakness Decreased sensitivity to hypoxemia 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 Lumbar hyperlordosis Joint contracture of the hand Alacrima Weak voice Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Flexion contracture of toe Spinal deformities Wrist flexion contracture Congenital hip dislocation Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Hip contracture High pitched voice Myotonia Overfolded helix Metaphyseal widening Coxa vara Coxa valga Increased blood urea nitrogen Abnormality of the pleura Concave nasal ridge High myopia Peripheral neuropathy Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Generalized joint laxity Limited elbow extension Adducted thumb Interphalangeal joint contracture of finger Skin rash Areflexia Camptodactyly of finger Arthralgia Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Renal insufficiency Abnormality of the kidney Decreased number of large peripheral myelinated nerve fibers Orthostatic hypotension Abnormal renal physiology Abnormal pupil morphology Recurrent corneal erosions Hypoxemia Corneal erosion Heterochromia iridis Elevated serum creatinine Aseptic necrosis Episodic fever Glomerulopathy Agitation Corneal opacity Anteverted ears Epiphora Hyponatremia Glomerulosclerosis Osteolysis Peripheral demyelination Hypotension Sensory impairment Sensory neuropathy Tachycardia Nausea Clitoral hypoplasia Micropenis Poor fine motor coordination Focal impaired awareness seizure Hernia Hydrocephalus Downslanted palpebral fissures Cleft palate Abnormality of lower lip Hemifacial hypoplasia Macrodontia Cupped ear Language impairment Tented upper lip vermilion Glaucoma Absence seizures Finger clinodactyly Low anterior hairline Stereotypy Open mouth Hypoplasia of penis Epileptic encephalopathy Prominent nose Highly arched eyebrow Abnormal heart morphology Abnormal cardiac septum morphology Synophrys Mitral regurgitation Hyperextensible skin Cutis laxa Microretrognathia Joint dislocation Meningitis Rhizomelia Amblyopia Left ventricular hypertrophy Abnormal lung morphology Blue sclerae Hip dislocation Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Mitral valve prolapse Microdontia Webbed neck Short metacarpal Abnormality of the foot Pulmonic stenosis Narrow chest Everted lower lip vermilion Postnatal growth retardation Radioulnar synostosis Abnormality of movement Abnormality of the face Status epilepticus Intellectual disability, profound Generalized-onset seizure Overgrowth Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Falls Neurological speech impairment Exotropia Mandibular prognathia Cerebellar atrophy Hyperreflexia Obsessive-compulsive behavior Small nail Hyperlordosis Low-set, posteriorly rotated ears Posteriorly rotated ears Brachydactyly Postnatal microcephaly Aspiration Coarse facial features Fair hair Retrognathia Anisometropia Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Happy demeanor Moderate global developmental delay Profound global developmental delay Blue irides Intellectual disability, progressive Progressive gait ataxia Epileptic spasms Drowsiness Protruding tongue Atonic seizures Keratoconus Flat occiput Hyperkinesis Drooling Cerebral palsy Patent foramen ovale Spondyloepiphyseal dysplasia Abdominal obesity Primary amenorrhea Nasal speech Poor suck Scrotal hypoplasia Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Bradycardia Insulin resistance Cutaneous photosensitivity Precocious puberty Psychosis Type II diabetes mellitus Decreased fetal movement Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Amenorrhea Specific learning disability Growth hormone deficiency Failure to thrive in infancy Hyperinsulinemia Sepsis Iris hypopigmentation Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Oligomenorrhea Central hypotonia Abnormality of lipid metabolism Hypoventilation Radial deviation of finger Hypopigmentation of hair Pulmonary embolism Striae distensae Myeloid leukemia External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Glucose intolerance Inflammation of the large intestine Gastrointestinal hemorrhage Tapered finger Metatarsus adductus Deep palmar crease Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Small face Prominent antitragus Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Enlarged metaphyses Spatulate thumbs Polymicrogyria Weight loss Delayed puberty Carious teeth Pruritus Leukemia Stroke Respiratory tract infection Abnormality of the nervous system Hypoglycemia Photophobia Respiratory failure Broad distal phalanges of all fingers Diabetes mellitus Hypogonadism Upslanted palpebral fissure Dilatation Syndactyly Intrauterine growth retardation Failure to thrive Neoplasm Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Anterior bowing of long bones


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Astigmatism, related diseases and genetic alterations Cardiomyopathy and Renal agenesis, related diseases and genetic alterations Cleft palate and Immunodeficiency, related diseases and genetic alterations Failure to thrive and Metabolic acidosis, related diseases and genetic alterations Sensorineural hearing impairment and Split hand, related diseases and genetic alterations Ataxia and Intestinal malrotation, related diseases and genetic alterations