Microphthalmia, and Arrhythmia

Diseases related with Microphthalmia and Arrhythmia

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

Top matches:

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

Other less relevant matches:

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

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

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

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Arrhythmia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Intellectual disability Dilated cardiomyopathy Agenesis of corpus callosum Cardiomyopathy Intrauterine growth retardation Strabismus Cataract Generalized hypotonia Growth delay Tachycardia Nystagmus Abnormal facial shape Atrial septal defect Corneal opacity Congenital glaucoma Supraventricular tachycardia Wide nasal bridge Depressed nasal bridge Histiocytoid cardiomyopathy Hernia Hypermetropia Polymicrogyria Glaucoma Retinal detachment Ventricular septal defect Hearing impairment Muscular hypotonia Cardiac arrest Ventricular fibrillation

Rare Symptoms - Less than 30% cases

Macrocephaly Abnormality of the cerebral white matter Posterior embryotoxon Blepharophimosis Cerebellar hypoplasia Abnormal heart morphology Redundant skin Microcornea Severe short stature Cortical dysplasia Congenital diaphragmatic hernia Congenital cataract Holoprosencephaly Stroke Dilatation Micropenis Cupped ear Hypoplasia of the uterus Ambiguous genitalia Anencephaly Oligohydramnios Ascites Facial palsy Abnormality of the nervous system Retinal dysplasia Arteria lusoria Abnormal lacrimal duct morphology Respiratory distress Hypopigmentation of the skin Epicanthus Hypertelorism Cavum septum pellucidum Micrognathia Dilation of lateral ventricles Vesicoureteral reflux Sclerocornea Short stature Scoliosis Pulmonary hypoplasia Aplasia/Hypoplasia of the skin Amblyopia Ventricular tachycardia Preauricular skin tag Abnormality of the pinna Visual impairment Congenital hip dislocation Multicystic kidney dysplasia Motor delay Retrognathia Syndactyly Abnormality of cardiovascular system morphology Cleft palate Sensorineural hearing impairment Elevated serum creatine phosphokinase Preauricular pit Hypospadias High palate Feeding difficulties Ventriculomegaly Pulmonic stenosis Hypothyroidism Polydactyly Patent ductus arteriosus High forehead Oral cleft Deeply set eye Abnormality of the skin Arnold-Chiari malformation Ischemic stroke Hemangioma Cutis laxa Cutaneous syndactyly Shock Purpura Telangiectasia Postaxial hand polydactyly Overgrowth Nevus Joint laxity Thick vermilion border Postaxial polydactyly Joint hypermobility Frontal bossing Smooth philtrum Toe syndactyly Finger syndactyly Leukemia Broad forehead Postnatal growth retardation Edema Muscular dystrophy Downslanted palpebral fissures Knee flexion contracture Skeletal muscle hypertrophy Neonatal hypotonia Dolichocephaly Mask-like facies Hypoplasia of the brainstem Congenital muscular dystrophy Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Lissencephaly Hemivertebrae Increased variability in muscle fiber diameter EMG abnormality Bradycardia Pachygyria Encephalocele Cerebellar vermis hypoplasia Brain atrophy Arthrogryposis multiplex congenita Generalized muscle weakness Apnea Camptodactyly of finger Calf muscle hypertrophy Cognitive impairment Exaggerated startle response Low-set ears Neoplasm Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Abnormal cerebellum morphology Cerebellar cyst Type II lissencephaly Multiple joint contractures Cerebellar dysplasia Buphthalmos Myocardial fibrosis Hip dislocation Ankle contracture Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Spinal rigidity Generalized amyotrophy Reduced bone mineral density Subcutaneous hemorrhage Nephroblastoma Dermal atrophy Anteriorly placed anus Absent septum pellucidum Abnormality of the ear Dysphasia Aphasia Albinism Tricuspid regurgitation Anophthalmia Clitoral hypertrophy Patent foramen ovale Mutism Abnormal eyelash morphology Hypopigmented skin patches Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Abnormality of retinal pigmentation Mitral regurgitation Status epilepticus Mitral valve prolapse Aplasia cutis congenita Male pseudohermaphroditism Specific learning disability Mandibular aplasia Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Functional motor deficit Ovotestis Abnormality of the penis Overriding aorta Ocular albinism Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Echolalia Abnormal eyelid morphology Pigmentary retinopathy Retinal dystrophy Cutis marmorata Varicose veins Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Atrial flutter Abnormality of the upper limb Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Large earlobe Meningioma EEG abnormality Megalencephaly Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Nevus flammeus Syringomyelia Telangiectasia of the skin Multiple cafe-au-lait spots Abnormality of digit Large for gestational age Perisylvian polymicrogyria Short lower limbs Iris coloboma Hypogonadism Wide nose Abnormality of skin pigmentation Anal atresia Nail dystrophy Skin rash Abnormal cardiac septum morphology Coloboma Erythema Hypertrophic cardiomyopathy Dyspnea Respiratory failure Visual loss Capillary malformation Abnormality of metabolism/homeostasis Midface retrusion Blindness Blue nevus Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Rigidity Abdominal distention Brachycephaly Spastic tetraplegia Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Hemiparesis Migraine Infantile spasms Tetraplegia Muscle cramps Renal cyst Nephropathy Hematuria Astigmatism Retinopathy Dementia Depressivity Headache Scotoma Hypoplasia of the iris Cerebellar atrophy Polycoria Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Rieger anomaly Increased intraocular pressure 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 Ectopia pupillae Intellectual disability, mild Dysarthria Renal insufficiency Hyperpigmented streaks Peters anomaly Abnormal myocardium morphology Left ventricular noncompaction Wolff-Parkinson-White syndrome Hypoplastic left heart Cardiomegaly Sudden cardiac death Hepatic steatosis Congestive heart failure Lacrimal duct atresia Endocardial fibroelastosis Pericardial effusion Severe muscular hypotonia Muscular hypotonia of the trunk Paroxysmal tachycardia Calcium oxalate nephrolithiasis Hyperglycinuria Glycosuria Nephrolithiasis Syncope Hypertension Skeletal myopathy Abnormal atrioventricular conduction Abnormality of the breast Abnormality of the hair Premature atrial contractions Female infertility Unilateral ptosis Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Short finger Premature ovarian insufficiency Narrow palpebral fissure Primary amenorrhea Decreased activity of mitochondrial complex I Narrow forehead Amenorrhea Infertility Synophrys Camptodactyly Telecanthus Ptosis Acute tubular necrosis Hypoplasia of the retina Increased mitochondrial number Dysphagia Conductive hearing impairment Areflexia Limb undergrowth Hypokinesia Flared metaphysis Hyperostosis Growth abnormality Disproportionate short-limb short stature Hypocalcemia Progressive microcephaly Bowing of the long bones Decreased fetal movement Recurrent fractures Thin ribs Micromelia Small for gestational age Short philtrum Craniosynostosis Coarse facial features Skeletal dysplasia Osteopenia Prominent forehead Pneumonia Clinodactyly Slender long bone Aniridia Anteverted nares Muscle weakness Pectus excavatum Myopathy Intellectual disability, severe Respiratory insufficiency Gait disturbance Optic atrophy Skeletal muscle atrophy Delayed speech and language development Flexion contracture Hypoplastic spleen Severe intrauterine growth retardation Overtubulated long bones Thin clavicles Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Decreased skull ossification Short hallux Asplenia Radial bowing Short nose Brachydactyly Hydronephrosis Atrial fibrillation Mixed hearing impairment Premature graying of hair Ectopic kidney Epiphora Polycystic kidney dysplasia Atresia of the external auditory canal Renal hypoplasia/aplasia Narrow face Renal dysplasia Renal hypoplasia Stenosis of the external auditory canal Bilateral sensorineural hearing impairment Microdontia Renal agenesis Intestinal malrotation Bifid uvula Flat face Long face Microtia Paralysis Abnormality of the kidney External ear malformation Lacrimation abnormality Gustatory lacrimation Bilateral renal dysplasia Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Renal steatosis Ureteropelvic junction obstruction Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Branchial cyst Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Anal fistula


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