Microphthalmia, and Bradycardia

Diseases related with Microphthalmia and Bradycardia

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

Top matches:

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Other less relevant matches:

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

Low match HYPERGLYCINURIA

The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate nephrolithiasis|glycinuria with or without oxalate urolithiasis|iminoglycinuria type ii

Related symptoms:

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERGLYCINURIA

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

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

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Bradycardia

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypermetropia Cataract Generalized hypotonia Nystagmus Hydrocephalus Muscular hypotonia Ventricular fibrillation Abnormality of the pinna High palate Dilated cardiomyopathy Hearing impairment Cardiac arrest Ventricular tachycardia Agenesis of corpus callosum Depressed nasal bridge Abnormal facial shape Carious teeth Facial palsy Syndactyly Abnormality of the dentition Wide nasal bridge Epicanthus Glaucoma Microcephaly Scoliosis Dilatation Myopathy Intrauterine growth retardation Cardiomyopathy Motor delay Tachycardia

Rare Symptoms - Less than 30% cases

Stroke Dysphagia Corneal opacity Cognitive impairment Congenital glaucoma Inflammation of the large intestine Hypogonadotrophic hypogonadism Hemiparesis Arachnodactyly Retrognathia Telecanthus Behavioral abnormality Supraventricular tachycardia Microcornea Dysarthria Cupped ear Cryptorchidism Pain Cleft palate Micrognathia Neoplasm Hypertelorism Ventricular septal defect Prominent forehead Depressivity Mixed hearing impairment Abnormality of the nervous system Hypopigmentation of the skin Intellectual disability, mild Congestive heart failure Hypertension Feeding difficulties Amenorrhea Failure to thrive Narrow forehead Oligohydramnios Hypothermia Primary amenorrhea Arrhythmia Narrow palpebral fissure Cardiomegaly Microdontia Esotropia Syncope Sudden cardiac death Hypoglycemia Thin upper lip vermilion Autism Histiocytoid cardiomyopathy Infertility Abnormal lacrimal duct morphology Growth delay Intellectual disability, severe Ventriculomegaly Delayed speech and language development Atrial septal defect Hemivertebrae Congenital hip dislocation Preauricular skin tag Visual impairment Macrocephaly Retinal detachment Polymicrogyria Congenital cataract Multiple joint contractures Abnormality of the cerebral white matter Dolichocephaly Hip dislocation Apnea Neonatal hypotonia EEG abnormality Brachycephaly Cerebellar hypoplasia Elevated serum creatine phosphokinase Pectus excavatum Skeletal muscle hypertrophy Holoprosencephaly Lacrimation abnormality Triangular mouth Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Renal steatosis Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Bilateral renal dysplasia Nephrolithiasis Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Ocular albinism Hypoplasia of the cochlea Glycosuria Chromosome breakage Branchial fistula Peters anomaly Abnormal myocardium morphology Left ventricular noncompaction Wolff-Parkinson-White syndrome Arteria lusoria Skeletal muscle atrophy Hypoplastic left heart Hepatic steatosis Optic atrophy Hyperpigmented streaks Lacrimal duct atresia Hyperglycinuria Cavum septum pellucidum Dilation of lateral ventricles Sclerocornea Renal malrotation Pericardial effusion Severe muscular hypotonia Muscular hypotonia of the trunk Gait disturbance Cochlear malformation Paroxysmal tachycardia Calcium oxalate nephrolithiasis Unilateral renal hypoplasia Euthyroid goiter Endocardial fibroelastosis Bicuspid aortic valve Hyperinsulinemia Dilatated internal auditory canal Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Cholesteatoma Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Respiratory insufficiency Incomplete partition of the cochlea type II Spontaneous abortion Increased body weight Aortic valve stenosis Insulin resistance Clumsiness Respiratory distress Cutaneous photosensitivity Psychosis Type II diabetes mellitus Enlarged cochlear aqueduct Decreased fetal movement Radial deviation of finger Emotional lability Hypoplasia of the fovea Hypopigmentation of hair Lacrimal duct aplasia Abnormality of the renal collecting system Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Abnormality of the cerebrum Iris hypopigmentation Hypoventilation Pulmonary embolism Large hands Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Albinism Glucose intolerance Skeletal myopathy Branchial cyst Stenosis of the external auditory canal Diffuse leukoencephalopathy Conductive hearing impairment Renal insufficiency Sensorineural hearing impairment Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Perivascular spaces Lacrimal duct stenosis Polycoria Rieger anomaly Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Hydronephrosis Abnormality of the kidney Increased intraocular pressure Narrow face External ear malformation Premature graying of hair Ectopic kidney Preauricular pit Epiphora Polycystic kidney dysplasia Atresia of the external auditory canal Renal hypoplasia/aplasia Multicystic kidney dysplasia Ureteropelvic junction obstruction Renal dysplasia Paralysis Atrial fibrillation Renal hypoplasia Bilateral sensorineural hearing impairment Renal agenesis Intestinal malrotation Vesicoureteral reflux Bifid uvula Pulmonary hypoplasia Flat face Long face Microtia Ectopia pupillae Hypoplasia of the iris Body odor Overbite Unilateral ptosis Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Short finger Hypoplasia of the uterus Flexion contracture Premature ovarian insufficiency Abnormality of the hair Congenital diaphragmatic hernia Bilateral renal agenesis Premature atrial contractions Synophrys Blepharophimosis Camptodactyly Hernia Abnormality of the middle ear ossicles Ptosis Acute tubular necrosis Hypoplasia of the retina Increased mitochondrial number Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Female infertility Abnormality of the breast Posterior embryotoxon Amblyopia Infantile spasms Scotoma Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Spastic tetraplegia Muscle weakness Migraine Tetraplegia Muscle cramps Renal cyst Nephropathy Hematuria Astigmatism Retinopathy Dementia Headache Cerebellar atrophy Agyria Sepsis Abnormality of the cardiovascular system Vertebral fusion Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Agenesis of permanent teeth Broad face Long fingers Basal cell carcinoma Milia Disproportionate tall stature Hypoplasia of the brainstem Melanocytic nevus Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Neoplasm of the endocrine system Ulcerative colitis Muscle stiffness Severe hydrocephalus Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Multiple impacted teeth Brain neoplasm Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Mask-like facies Short ribs Bridged sella turcica Spasticity Visual loss Spinal rigidity Transposition of the great arteries Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Weak cry Brachydactyly Atrophy/Degeneration affecting the brainstem Anencephaly Ankle contracture Polydactyly Retinal dysplasia Myocardial fibrosis Buphthalmos Cerebellar dysplasia Type II lissencephaly Ataxia Exaggerated startle response Cerebellar cyst Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Abdominal pain Proptosis Spina bifida Increased variability in muscle fiber diameter Hyperpigmentation of the skin Exotropia Abnormality of the ribs Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Calf muscle hypertrophy Mandibular prognathia Hypotrichosis Papule Coloboma Sparse hair Cleft lip Generalized amyotrophy Proteinuria Carcinoma Coarse facial features Cortical dysplasia Kyphoscoliosis Plantar pits Cardiac fibroma Specific learning disability Edema Upslanted palpebral fissure Osteoporosis Recurrent respiratory infections Hyporeflexia Clinodactyly Obesity Short nose Kyphosis Rigidity Vomiting Talipes equinovarus Diabetes mellitus Fever Camptodactyly of finger Muscular dystrophy Short stature Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Hypogonadism Hyperactivity Perimembranous ventricular septal defect Downturned corners of mouth Hip dysplasia Febrile seizures Growth hormone deficiency Gastrointestinal hemorrhage Full cheeks Hypoglycosylation of alpha-dystroglycan Areflexia Sleep disturbance Tapered finger Short foot Small hand Short palm Respiratory failure Genu valgum Delayed puberty Pruritus Leukemia Attention deficit hyperactivity disorder Respiratory tract infection Photophobia Osteopenia Narrow mouth Weight loss Micropenis Torsade de pointes Amelogenesis imperfecta Irregular ossification of hand bones EMG abnormality Abnormal cardiac septum morphology Autistic behavior Hypertrophic cardiomyopathy Encephalocele Pachygyria Gastroesophageal reflux Hypothyroidism Pneumonia Constipation Abnormal heart morphology Patent ductus arteriosus Joint hypermobility Encephalopathy Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Knee flexion contracture Lissencephaly Plagiocephaly Aplasia/Hypoplasia of the corpus callosum Low-set ears Congenital muscular dystrophy Hamartomatous stomach polyps Toe syndactyly Coma Protruding tongue Pulmonic stenosis Cutaneous finger syndactyly Bronchitis Arthrogryposis multiplex congenita Prolonged QT interval 2-3 toe syndactyly Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Abnormality of dental enamel Hypoplasia of the maxilla Hypocalcemia Sinusitis Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Tetralogy of Fallot Abnormal cerebellum morphology Generalized muscle weakness Round face Brain atrophy Cerebellar vermis hypoplasia Gustatory lacrimation


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