Congestive heart failure, and Dandy-Walker malformation

Diseases related with Congestive heart failure and Dandy-Walker malformation

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Dandy-Walker malformation that can help you solving undiagnosed cases.


Top matches:

High match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

High match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

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Other less relevant matches:

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Medium match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Medium match ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12


ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 Is also known as arrhythmogenic right ventricular cardiomyopathy 12|arvc12

Related symptoms:

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12

Medium match LEFT VENTRICULAR NONCOMPACTION 8; LVNC8


Related symptoms:

  • Hypertension
  • Ventriculomegaly
  • Congestive heart failure
  • Arrhythmia
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 8; LVNC8

Medium match CARDIOMYOPATHY, DILATED, 1D; CMD1D


CARDIOMYOPATHY, DILATED, 1D; CMD1D Is also known as left ventricular noncompaction 6, included|lvnc6, included

Related symptoms:

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1D; CMD1D

Low match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Low match CARDIOMYOPATHY, DILATED, 1S; CMD1S


Related symptoms:

  • Muscle weakness
  • Ventriculomegaly
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Top 5 symptoms//phenotypes associated to Congestive heart failure and Dandy-Walker malformation

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Dandy-Walker malformation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Dilatation Left ventricular noncompaction Cataract Muscle weakness High palate Short stature Myopathy Global developmental delay Hypertrophic cardiomyopathy Severe global developmental delay Muscular hypotonia Feeding difficulties in infancy Thick vermilion border Wide nose Cerebral cortical atrophy Ventricular arrhythmia Hypertonia Pulmonary arterial hypertension Ventricular hypertrophy Failure to thrive Atrial fibrillation Growth delay Depressed nasal bridge Abnormal facial shape Low-set ears Epicanthus Hypertelorism Scoliosis Microcephaly Hearing impairment Cleft palate Hypoplasia of the corpus callosum Motor delay Micrognathia

Rare Symptoms - Less than 30% cases


Nystagmus Narrow forehead Strabismus Broad hallux Hypertension Self-injurious behavior Hypospadias Esotropia Hypopigmentation of the skin Single transverse palmar crease Muscular hypotonia of the trunk Bundle branch block Agenesis of corpus callosum Abnormal EKG Left bundle branch block Hydrocephalus T-wave inversion Fatigue Dyspnea Respiratory distress Optic atrophy Severe sensorineural hearing impairment Aplasia/Hypoplasia of the corpus callosum Abnormality of retinal pigmentation Decreased body weight Left ventricular hypertrophy Open mouth Cerebellar vermis hypoplasia Coarse facial features Anteverted nares Peripheral neuropathy Cryptorchidism Sensorineural hearing impairment Mitral regurgitation Skeletal myopathy Congenital cataract Stroke Mental deterioration Acidosis Brachydactyly Pectus excavatum Abnormality of the skeletal system Cerebellar hypoplasia Intellectual disability, mild Left ventricular failure Long philtrum Reduced systolic function Wide intermamillary distance Low-set, posteriorly rotated ears Cutis laxa Telecanthus Overfolded helix Tricuspid regurgitation Posteriorly rotated ears Long fingers Inguinal hernia Left ventricular noncompaction cardiomyopathy Abnormal left ventricle morphology Overlapping toe Atrioventricular block Right ventricular dilatation Arrhythmia Recurrent fungal infections Joint hypermobility Joint hyperflexibility Paroxysmal ventricular tachycardia Neurological speech impairment Hypopigmentation of the fundus Pectus carinatum Abnormality of the thymus Wide mouth Short distal phalanx of finger Protruding ear Hyperlordosis Pes planus Kyphoscoliosis Macrotia Thick eyebrow Premature atrial contractions Everted lower lip vermilion Tetraplegia Abnormal form of the vertebral bodies Thick lower lip vermilion Psychosis Dental malocclusion Hypoplasia of the thymus Short metacarpal Atrial flutter Hypoplasia of the maxilla Delayed skeletal maturation Hypodontia Pulmonary embolism Delayed eruption of teeth Sinus bradycardia Cellular immunodeficiency Tapered finger Highly arched eyebrow Mandibular prognathia Abnormal posturing Kyphosis Recurrent aspiration pneumonia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Decreased proportion of CD4-positive T cells Aplasia/Hypoplasia of the macula Abnormality of the optic disc Acute bronchitis Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity White matter neuronal heterotopia Abnormality of the mandible Abnormality of the cerebellar vermis Wide anterior fontanel Granulocytopenia Intellectual disability, severe Frontal bossing Gait disturbance Downslanted palpebral fissures Pontocerebellar atrophy Proximal muscle weakness Cognitive impairment Pulmonic stenosis Macrocephaly Coarctation of aorta Skeletal muscle atrophy Shock Bicuspid aortic valve Coronary artery atherosclerosis Myocarditis Coarse hair Abnormality of the hair Narrow iliac wings Pulmonary artery stenosis Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Hypokinesia Broad finger Thick nasal alae Myocardial fibrosis Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology First degree atrioventricular block Pseudoepiphyses of the metacarpals ST segment depression Pulmonary artery hypoplasia Right ventricular cardiomyopathy Cardiogenic shock Abnormal echocardiogram Prolonged QRS complex T-wave inversion in the right precordial leads Monomorphic ventricular tachycardia Aortic arch aneurysm Ventricular tachycardia Retinoschisis Syncope Tachycardia Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Abnormal cortical gyration Ataxia Coxa valga Aplasia/Hypoplasia of the cerebellum Abnormality of digit Progressive spasticity Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Large hands Abnormality of dental morphology Thickened calvaria Prominent supraorbital ridges Redundant skin Schizophrenia Sleep apnea Widely spaced teeth Narrow palate Thromboembolism Broad palm Amyloidosis Delayed closure of the anterior fontanelle Hypoplastic fingernail Pain Craniofacial hyperostosis Sudden cardiac death Chest pain Abnormal mitral valve morphology Restrictive cardiomyopathy Cardiomegaly Bradycardia Atonic seizures Ventricular fibrillation Acrocyanosis Increased variability in muscle fiber diameter Pericardial effusion Abnormality of the thyroid gland Soft skin Spinal canal stenosis Anteriorly placed anus Recurrent viral infections Triangular face Chronic mucocutaneous candidiasis Skeletal dysplasia Ichthyosis Smooth philtrum Toe syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Aggressive behavior Deeply set eye Polyhydramnios Bulbous nose Polydactyly Hyperactivity Midface retrusion Syndactyly Ventricular septal defect Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Long face Aortic valve stenosis Median cleft palate Spotty hypopigmentation Osteopenia Glaucoma Thrombocytopenia Headache Respiratory insufficiency Myopia Olivopontocerebellar hypoplasia Hypoplastic aortic arch Long neck Narrow palpebral fissure Otosclerosis Overlapping fingers Narrow nose Epiphyseal stippling Ectopic kidney 2-3 toe syndactyly Sacral dimple Microretrognathia Upper limb asymmetry Broad eyebrow Generalized muscle weakness Brachycephaly Microtia Retinopathy Blepharophimosis Abnormality of the pinna Umbilical hernia High forehead Narrow mouth Upslanted palpebral fissure Microcornea Abnormal heart morphology Hernia Abnormality of cardiovascular system morphology Microphthalmia Edema Short neck Wide nasal bridge Delayed speech and language development Flat face Full cheeks Periorbital fullness Optic nerve hypoplasia Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Scrotal hypoplasia Nevus Generalized hirsutism Thickened skin Hypoplasia of dental enamel Abnormality of the face Hypertrichosis Short palpebral fissure Febrile seizures Abnormality of the skin Lactic acidosis Increased serum lactate Hypoplasia of the pons Progressive neurologic deterioration Recurrent bacterial infections Increased body weight Aspiration Lymphopenia Progressive microcephaly Decreased liver function Heterotopia Hypotelorism Infantile muscular hypotonia Decreased antibody level in blood Delayed myelination Sepsis Neutropenia Sleep disturbance High, narrow palate Pulmonary hypoplasia Polymicrogyria Leukopenia Adducted thumb Joint stiffness Optic neuropathy Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Hypopigmentation of hair Abnormality of immune system physiology Poor suck Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Albinism Congenital sensorineural hearing impairment Cleft upper lip Respiratory tract infection Aciduria Abnormal electroretinogram Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Recurrent upper respiratory tract infections Abnormal myelination Easy fatigability Eosinophilia Ragged-red muscle fibers Tachypnea Corneal dystrophy Exercise intolerance Cardiac arrest Hemiparesis 3-Methylglutaconic aciduria Decreased activity of mitochondrial respiratory chain Postnatal growth retardation Cerebellar atrophy Cleft lip EEG abnormality Respiratory failure Rod-cone dystrophy Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Hyperreflexia Fatty replacement of skeletal muscle Feeding difficulties Ptosis Spasticity Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Ebstein anomaly of the tricuspid valve



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