Epicanthus, and Arrhythmia

Diseases related with Epicanthus and Arrhythmia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Other less relevant matches:

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

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

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Top 5 symptoms//phenotypes associated to Epicanthus and Arrhythmia

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Downslanted palpebral fissures Wide nasal bridge Generalized hypotonia Microcephaly Muscular hypotonia Growth delay Low-set ears Ptosis Hypertelorism Abnormality of the skeletal system Sensorineural hearing impairment Strabismus Malar flattening Long philtrum Micrognathia Pes planus Atrial septal defect Hearing impairment Wide mouth

Rare Symptoms - Less than 30% cases

Hyperactivity Flexion contracture Spasticity Cataract Muscle weakness Convex nasal ridge Triangular face Recurrent infections Pes cavus Renal insufficiency Hypertonia Cardiomyopathy Peripheral neuropathy Motor delay Mitral valve prolapse Osteoporosis Ataxia Dolichocephaly Acidosis Myalgia Anteverted nares Joint hypermobility Failure to thrive Dilatation Scoliosis Ventricular extrasystoles Facial asymmetry Thin upper lip vermilion High forehead Sinus tachycardia Upslanted palpebral fissure Pectus excavatum Short nose Neonatal hypotonia Joint laxity Kyphosis Behavioral abnormality Delayed speech and language development Congenital cataract Midface retrusion Synophrys Ventriculomegaly Full cheeks Nystagmus Feeding difficulties Congenital ptosis Thick vermilion border Hypermetropia Depressed nasal bridge Webbed neck Pectus carinatum Macrocephaly Abnormality of the sternum Prominent forehead Abnormality of nervous system morphology Visual impairment Thoracic hypoplasia Secundum atrial septal defect Shallow orbits Anteriorly placed anus External genital hypoplasia Mild short stature Hepatomegaly Female infertility Skeletal muscle atrophy Nyctalopia Large fontanelles Abnormality of the face Esotropia Renal cyst Cirrhosis Ichthyosis Retinopathy Optic atrophy Respiratory tract infection Postnatal growth retardation Facial palsy Jaundice Tricuspid regurgitation Absent speech Rod-cone dystrophy Redundant skin Rocker bottom foot Abnormal heart morphology Respiratory arrest Diaphragmatic eventration Long upper lip Mixed respiratory and metabolic acidosis Cleft palate Intrauterine growth retardation Frontal bossing Ventricular septal defect Pulmonic stenosis Respiratory distress Hydrocephalus Intellectual disability, mild Abnormality of cardiovascular system morphology Patent ductus arteriosus Clinodactyly of the 5th finger Patent foramen ovale Small hand Abnormality of epiphysis morphology Abnormality of vision Plagiocephaly Short palpebral fissure Interphalangeal joint contracture of finger Short neck Smooth philtrum Agenesis of corpus callosum Camptodactyly of finger Abnormality of the pinna Abnormality of the eye Low-set, posteriorly rotated ears Mandibular prognathia Hypertrophic cardiomyopathy Nephrolithiasis Hepatic fibrosis Rhizomelia Abnormal palate morphology Keratoconjunctivitis sicca Keratoconus Decreased fertility Elbow dislocation Hyperextensible skin Decreased nerve conduction velocity Osteolysis Aortic root aneurysm Joint dislocation Wormian bones Gingival overgrowth Subcutaneous nodule Thin skin Osteoarthritis Striae distensae Soft skin Migraine Abnormality of the menstrual cycle Cystocele Tendon rupture Premature rupture of membranes Arterial dissection Anorectal anomaly Abnormality of the gingiva Ascending tubular aorta aneurysm Gingivitis Venous insufficiency Gastrointestinal dysmotility Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the wrist Atypical scarring of skin Acrocyanosis Microdontia Limitation of joint mobility Progressive muscle weakness Hypocholesterolemia Fatigue Pain Elevated levels of phytanic acid Very long chain fatty acid accumulation Progressive spinal muscular atrophy Hyperoxaluria Epiphyseal stippling Abnormality of the dentition Severe hearing impairment Constriction of peripheral visual field Impulsivity Spinal muscular atrophy Leukodystrophy Breech presentation Vomiting Depressivity Abdominal distention Malabsorption Sleep disturbance Nausea Vertigo Paresthesia Joint hyperflexibility Abnormality of the foot Nausea and vomiting Inguinal hernia Hip dislocation Apnea Umbilical hernia Arthralgia Gastroesophageal reflux Constipation Severe lactic acidosis Acute kidney injury Hyperphosphatemia Peripheral demyelination Abnormality of skeletal muscles Uric acid nephrolithiasis Amenorrhea Microcornea Infertility Blepharophimosis Talipes equinovarus Intellectual disability, severe Hyporeflexia Camptodactyly Severe short stature Telecanthus Sensory neuropathy Asthma Broad-based gait Increased urinary hypoxanthine Decreased body weight Coxa vara Congenital contracture Metaphyseal irregularity Short femoral neck Generalized amyotrophy Thoracic scoliosis Metaphyseal cupping Vertical nystagmus Hernia Microphthalmia Hyperreflexia Brachydactyly Dysphagia Excessive purine production Hyperuricosuria Thickened helices Pneumonia Abnormality of the breast Abnormal lacrimal duct morphology Unilateral ptosis Epicanthus inversus Increased circulating gonadotropin level Short finger Hypoplasia of the uterus Hypertension Cupped ear Premature ovarian insufficiency Holoprosencephaly Narrow palpebral fissure Abnormality of the hair Areflexia Diabetes mellitus Abnormal aortic morphology Congenital diaphragmatic hernia High-frequency hearing impairment Gout Arnold-Chiari type I malformation Hyperuricemia Hypotelorism Narrow forehead Polyneuropathy Primary amenorrhea Peripheral axonal neuropathy Dysmetria Abnormality of eye movement Neurological speech impairment Abnormality of the nervous system Arthritis Myopia Clinodactyly Low hanging columella Lumbar hyperlordosis Rigidity Proximal muscle weakness Hyperlordosis Stroke Muscular dystrophy Arthrogryposis multiplex congenita Limb muscle weakness Lactic acidosis Tachycardia Metabolic acidosis Muscle cramps Abnormal bleeding Hypotension Decreased fetal movement Lymphedema Hyperhidrosis Hyperkalemia Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Premature atrial contractions Rhabdomyolysis Myopathic facies Shock Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Kyphoscoliosis Elevated serum creatine phosphokinase Wolff-Parkinson-White syndrome Syncope Gait ataxia Macrotia Broad hallux phalanx Broad thumb Aggressive behavior Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Broad forehead Poor speech Hypoplasia of the maxilla Thick eyebrow Short distal phalanx of finger Tapered finger Hypodontia Dental crowding Narrow mouth Obsessive-compulsive trait Myopathy Fever Cryptorchidism Microtia Aplasia of the 1st metacarpal Hyperacusis Mild global developmental delay Short phalanx of finger Abnormality of finger Absent radius 2-3 toe syndactyly Obsessive-compulsive behavior Abnormality of the hand Low anterior hairline Genital hernia


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