Myopathy, and Ventricular septal defect

Diseases related with Myopathy and Ventricular septal defect

In the following list you will find some of the most common rare diseases related to Myopathy and Ventricular septal defect that can help you solving undiagnosed cases.


Top matches:

Low match SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME


Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Low match NEMALINE MYOPATHY 9; NEM9


Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Low match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1


CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

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Other less relevant matches:

Low match HISTIOCYTOID CARDIOMYOPATHY


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

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Low match TIMOTHY SYNDROME


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

Low match GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY


Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY Is also known as gyg1 deficiency|glycogen storage disease type xv|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogenin deficiency|gsd type 15|glycogen storage disease type 15|glycogenosis type 15|glycogenosis type xv|gsd xv|gsd type xv|gsd with

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Respiratory distress
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY

Low match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Ventricular septal defect

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Cardiomyopathy Motor delay Flexion contracture Hypertelorism Abnormal cardiac septum morphology Abnormality of cardiovascular system morphology Arthrogryposis multiplex congenita Abnormal facial shape Intellectual disability Cardiomegaly Hypothyroidism Hydrocephalus Atrial septal defect Congestive heart failure Ventriculomegaly Hypoplasia of the corpus callosum Low-set ears Syndactyly Abnormal heart morphology Ptosis Ventricular tachycardia High palate Ventricular fibrillation Cleft palate Micrognathia

Rare Symptoms - Less than 30% cases


Pectus excavatum Muscular dystrophy Facial palsy Patent foramen ovale Posteriorly rotated ears Ventricular hypertrophy Pulmonary arterial hypertension Hip dislocation Webbed neck Coarctation of aorta Attention deficit hyperactivity disorder Hyperactivity Abnormal levels of creatine kinase in blood Radioulnar synostosis Inguinal hernia Polyhydramnios Encephalopathy Short stature Muscular hypotonia Talipes equinovarus Cognitive impairment Joint contracture of the hand Hydronephrosis Epicanthus Failure to thrive Camptodactyly Arachnodactyly Anteverted nares Short neck Intellectual disability, severe High, narrow palate Bifid uvula Decreased muscle mass Specific learning disability Multicystic kidney dysplasia Depressed nasal bridge Long philtrum Pyloric stenosis Mixed hearing impairment Submucous cleft hard palate Ventricular arrhythmia Cutaneous syndactyly Increased mitochondrial number Gastroesophageal reflux Prominent forehead Patent ductus arteriosus Retrognathia Abnormality of the dentition Wide nasal bridge Abnormality of the face Severe short stature Dilatation Abnormal myocardium morphology Sudden cardiac death Dilated cardiomyopathy Myopathic facies Cardiac arrest Histiocytoid cardiomyopathy Pneumonia Agenesis of corpus callosum Atrioventricular block Open mouth Microphthalmia Hypoplastic left heart Long face Endocardial fibroelastosis Neonatal hypotonia Skeletal myopathy Delayed speech and language development Left ventricular noncompaction Cryptorchidism Strabismus Syncope Ascites Colpocephaly Distal arthrogryposis Visual field defect Hydroureter Restlessness Asymmetry of the thorax Absent septum pellucidum Abnormality of the sternum Dextrocardia Metatarsus adductus Mask-like facies Hypoplasia of the brainstem Myotonia Abnormality of the upper urinary tract Limb joint contracture Sclerosis of skull base Primitive reflex Epispadias Flexion contracture of toe Congenital ptosis Abnormality of the cerebellar vermis Thoracolumbar kyphosis Abnormality of the penis Zollinger-Ellison syndrome Inferior vermis hypoplasia Aplasia/Hypoplasia involving the skeletal musculature Fixed facial expression Abnormal anatomic location of the heart Hearing impairment Neoplasm Congenital contracture Abnormal form of the vertebral bodies Rough bone trabeculation High iliac wings Camptodactyly of finger Blepharophimosis Joint stiffness Respiratory tract infection Abnormality of the pinna Postnatal growth retardation Abnormality of the kidney Aggressive behavior Talipes Facial hyperostosis Osteopathia striata Metaphyseal striations Straight clavicles Kyphoscoliosis Narrow mouth Micropenis Pectus carinatum Unilateral facial palsy Abnormality of the urinary system Short palpebral fissure Renal hypoplasia/aplasia Broad clavicles Alobar holoprosencephaly Situs inversus totalis Wide anterior fontanel Renal dysplasia Cataract Renal hypoplasia Pulmonary hypoplasia Interphalangeal joint contracture of finger Peripheral demyelination Laryngotracheomalacia Dandy-Walker malformation Renal agenesis Large iliac wings Craniofacial osteosclerosis Laryngeal web Pain Intellectual disability, mild Macrocephaly Osteopetrosis Spontaneous abortion Spina bifida Increased bone mineral density Ankylosis Pierre-Robin sequence Aortic valve stenosis Abnormal vertebral morphology Dental crowding Tracheomalacia Large fontanelles Aganglionic megacolon Omphalocele Abnormality of the metaphysis Thick lower lip vermilion Misalignment of teeth Echolalia Narrow palate Microretrognathia Oligohydramnios Fibular hypoplasia Aphasia Partial agenesis of the corpus callosum Thickened calvaria Delayed cranial suture closure Natal tooth Anal stenosis Hyperostosis Flat occiput Osteolysis Nephroblastoma Overfolded helix Metaphyseal widening Increased susceptibility to fractures Nasal speech Mutism Holoprosencephaly Spina bifida occulta Ectopic anus Narrow forehead Downslanted palpebral fissures Delayed closure of the anterior fontanelle Conductive hearing impairment Broad ribs Large forehead Facial paralysis White forelock Skeletal dysplasia High forehead Brachycephaly Apnea Clinodactyly of the 5th finger Clinodactyly Fibular aplasia Headache Dysphasia Otosclerosis Abnormality of the skeletal system Frontal bossing Cleft lip Hyperlordosis Thoracic dysplasia Thick vermilion border Cerebral calcification Wide intermamillary distance Abnormality of the skin Dental malocclusion Intestinal malrotation Broad nasal tip Delayed eruption of teeth Flat face Paralysis Thin vermilion border Cleft upper lip Anal atresia Ophthalmoplegia Dolichocephaly Broad forehead Microtia Craniosynostosis Lumbar hyperlordosis Abnormality of dental color Cerebellar hypoplasia Minicore myopathy Proximal muscle weakness Umbilical hernia Hernia Splenomegaly Brachydactyly Hypertension Mitochondrial depletion Increased endomysial connective tissue Severe global developmental delay Cleft soft palate Ankle contracture Difficulty running Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Calf muscle hypertrophy Congenital muscular dystrophy Knee flexion contracture Stroke Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Aplasia cutis congenita Esophageal varix Prominent superficial veins Calcinosis Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Spastic diplegia Pulmonic stenosis Abnormality of the coagulation cascade Cutis marmorata Portal hypertension Ischemic stroke Hyperammonemia Small nail Hip dysplasia Hepatic failure Generalized muscle weakness Acute tubular necrosis Aplasia cutis congenita of scalp Akinesia Inability to walk Dyspnea Abnormality of metabolism/homeostasis Edema Progressive distal muscle weakness Breech presentation Fetal akinesia sequence Narrow chest Heart murmur Distal muscle weakness Respiratory insufficiency Dilation of lateral ventricles Increased variability in muscle fiber diameter Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Decreased fetal movement Muscular hypotonia of the trunk Eosinophilia Myocardial fibrosis Hypoplasia of the retina Corneal opacity Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Peters anomaly Wolff-Parkinson-White syndrome Supraventricular tachycardia Congenital glaucoma Hepatic steatosis Abnormal mitochondrial number Restrictive cardiomyopathy Abnormality of the pulmonary veins Abnormal cardiac atrium morphology Abnormal ventricular filling Abnormality of cardiovascular system physiology Abnormal left ventricle morphology Abnormality of the mitochondrion Myofibrillar myopathy Pulmonary edema Right ventricular failure Cavernous hemangioma Areflexia Diabetes mellitus EMG: myopathic abnormalities Scapular winging Foot dorsiflexor weakness Palpitations Tachycardia Peripheral axonal neuropathy Vertigo Respiratory distress Bundle branch block Peripheral neuropathy Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Right bundle branch block Exertional dyspnea Hypothermia Decreased muscle glycogen content Hypospadias Kyphosis Skeletal muscle atrophy Intrauterine growth retardation Feeding difficulties Growth delay Microcephaly Left ventricular septal hypertrophy Abnormal EKG Cardiomyocyte hypertrophy Abdominal wall muscle weakness ST segment elevation Neck flexor weakness T-wave inversion Shoulder girdle muscle weakness Upper limb muscle weakness Myoglobinuria Perimembranous ventricular septal defect Amelogenesis imperfecta Hypersplenism Immunodeficiency Hypertrophic cardiomyopathy Hypoglycemia Thin upper lip vermilion Autism Constipation Depressivity Recurrent infections Behavioral abnormality Carious teeth Dysphagia Myopia Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Autistic behavior Toe syndactyly Protruding tongue Hypocalcemia Cutaneous finger syndactyly Bronchitis Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Obsessive-compulsive behavior Optic nerve hypoplasia Abnormality of dental enamel Bradycardia Joint hypermobility Sinusitis Hypoplasia of dental enamel Tetralogy of Fallot Microdontia Esotropia Round face Hypoplasia of the maxilla Coma Paranasal sinus hypoplasia



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