Epicanthus, and Fever

Diseases related with Epicanthus and Fever

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


Top matches:

Medium match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Medium match LYMPHEDEMA, HEREDITARY, III; LMPH3


Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

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Other less relevant matches:

Medium match LETHAL MULTIPLE PTERYGIUM SYNDROME


Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Medium match GM1 GANGLIOSIDOSIS TYPE 2


GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Medium match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Medium match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Medium match OHDO SYNDROME


OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Fever

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Generalized hypotonia Intellectual disability Hypertelorism Flexion contracture Global developmental delay Scoliosis Lymphedema Ptosis Cryptorchidism Muscle weakness Malignant hyperthermia Feeding difficulties Low-set ears Myopathy Webbed neck Abnormal facial shape Polyhydramnios Pectus excavatum Kyphosis Failure to thrive Cerebellar atrophy Hypertonia Long philtrum Rigidity Cleft palate Kyphoscoliosis Edema Recurrent respiratory infections Blepharophimosis Cellulitis Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases


Telecanthus Proximal muscle weakness Breech presentation Short nose Renal insufficiency Strabismus Malar flattening Narrow mouth Posteriorly rotated ears Arthritis Tented upper lip vermilion Prominent forehead Depressed nasal bridge Recurrent infections Immunodeficiency Clinodactyly of the 5th finger Adducted thumb Brachycephaly Flat face Fatigue Thin vermilion border Pterygium Motor delay Downslanted palpebral fissures Short palpebral fissure Verrucae Chronic otitis media Abnormality of the foot Talipes Wide nasal bridge Anteverted nares Ventriculomegaly Anemia Atrial septal defect Splenomegaly Pallor Hypothyroidism Midface retrusion Growth delay Respiratory insufficiency Myopathic facies Optic atrophy Hemolytic anemia Congenital contracture Generalized muscle weakness Decreased fetal movement Hypotension Abnormal bleeding Muscle cramps Myotonia Shock Abnormality of the coagulation cascade Metabolic acidosis Joint hypermobility Tachypnea Ventricular arrhythmia Deep philtrum Lumbar hyperlordosis Ventricular fibrillation Macronodular cirrhosis Tachycardia Pancytopenia Myeloid leukemia Prolonged bleeding time Leukocytosis Myelodysplasia Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Hypotelorism Acute leukemia Migraine Tapered finger Hematuria Bruising susceptibility Cirrhosis Lymphadenopathy Vertigo Acute myeloid leukemia Hypercoagulability Lactic acidosis Hyperhidrosis Limb muscle weakness Muscular dystrophy Pectus carinatum Stroke Hyperlordosis Myalgia Acidosis Pes cavus Abnormality of the optic nerve Elevated serum creatine phosphokinase Arrhythmia Dilatation Abnormal neutrophil count Abnormality of the sternum Erysipelas Granulocytopenia Myeloproliferative disorder Hyperkalemia Glaucoma Rhabdomyolysis Proteinuria Bifid uvula Triangular face Bulbous nose Smooth philtrum Joint hyperflexibility Microtia Feeding difficulties in infancy Joint laxity Retrognathia Specific learning disability Severe short stature Patent ductus arteriosus Abnormality of cardiovascular system morphology Abnormality of the dentition Ventricular septal defect Muscular hypotonia Chin with H-shaped crease Whistling appearance Prominent nose Sloping forehead Ulnar deviation of the hand or of fingers of the hand Stenosis of the external auditory canal Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Bladder diverticulum Hypoplasia of teeth Abnormality of the antihelix Submucous cleft hard palate Hypsarrhythmia Atrioventricular canal defect Long nose Prominent occiput Scrotal hypoplasia Widely spaced teeth Bilateral single transverse palmar creases Sparse and thin eyebrow Interphalangeal joint contracture of finger Shoulder flexion contracture Abnormal auditory evoked potentials Acute kidney injury Long upper lip Deeply set eye Mandibular prognathia Neurological speech impairment Inguinal hernia Short neck Talipes equinovarus Mixed respiratory and metabolic acidosis Sinus tachycardia Congenital ptosis Postnatal growth retardation Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Hyperphosphatemia Low hanging columella Thoracic kyphosis Myoglobinuria Scaphocephaly Camptodactyly Small for gestational age Flexion contracture of toe Hypoplasia of the brainstem Overbite Dimple chin Trismus Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Rheumatoid arthritis Hip dislocation Nasal speech Spina bifida occulta Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Nausea and vomiting Cognitive impairment Leukemia Genital edema Hypoplasia of the corpus callosum Tremor Hyperreflexia Visual impairment Delayed speech and language development Nystagmus Pulmonary lymphangiectasia Clinodactyly Prune belly Facial edema Intestinal lymphangiectasia Stomatocytosis Chylothorax Periorbital edema Spherocytosis Absent speech Cerebellar hypoplasia Nonimmune hydrops fetalis Finger clinodactyly Delayed ability to walk Ankle clonus Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Optic nerve hypoplasia Horizontal nystagmus Gait ataxia Clonus Broad-based gait Cyanosis Abnormal cerebellum morphology Dysmetria Apnea Muscular hypotonia of the trunk Generalized edema Varicose veins Titubation Dehydration Meningitis Sinusitis Bronchiectasis Chronic diarrhea Recurrent otitis media Hepatitis Decreased antibody level in blood Recurrent bacterial infections Sepsis Neutropenia Malabsorption Cough Skin rash Pneumonia Diarrhea Recurrent pneumonia Conjunctivitis Hydrocele testis Recurrent enteroviral infections Deep venous thrombosis Pericardial effusion Cupped ear Hydrops fetalis Ascites Gastroesophageal reflux Crohn's disease Recurrent skin infections B lymphocytopenia Agammaglobulinemia External ear malformation Recurrent sinusitis Bronchitis Osteomyelitis Encephalitis Broad face Truncal titubation Scarring Progressive psychomotor deterioration Areflexia Abnormality of the skeletal system Skeletal muscle atrophy Decreased beta-galactosidase activity Sea-blue histiocytosis Lumbar kyphosis Decerebrate rigidity Conductive hearing impairment Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Abnormality of the spleen Developmental stagnation Loss of speech Hyporeflexia Facial palsy Spastic paraparesis Sensorineural hearing impairment Weight loss Respiratory failure Visual loss Thrombocytopenia Syndactyly Hepatomegaly Neoplasm Long face Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Ankle contracture Gowers sign Open mouth Narrow forehead Downturned corners of mouth Brisk reflexes Coxa valga Intrauterine growth retardation Vertebral fusion Hypoplastic heart Multiple pterygia Fetal akinesia sequence Meningocele Thin ribs Cystic hygroma Short finger Abnormal cervical curvature Akinesia Increased susceptibility to fractures Joint dislocation Depressed nasal ridge Congenital diaphragmatic hernia Pulmonary hypoplasia Hernia Amyoplasia Ataxia Paraparesis Abnormality of the liver Abnormality of the face Clumsiness Spastic tetraplegia Generalized myoclonic seizures Tetraplegia Neurodegeneration Platyspondyly Developmental regression Pain Hepatosplenomegaly Babinski sign Cerebral atrophy Blindness Gait disturbance Hypertension Spasticity Abnormality of the cheek



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Gliosis, related diseases and genetic alterations Dysarthria and Downturned corners of mouth, related diseases and genetic alterations Motor delay and Situs inversus totalis, related diseases and genetic alterations

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