Hydrocephalus, and Dilated cardiomyopathy

Diseases related with Hydrocephalus and Dilated cardiomyopathy

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


Top matches:

High 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

High match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

High match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


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

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Other less relevant matches:

High match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


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

High 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

High match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

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

Medium 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

Medium 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 Hydrocephalus and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Left ventricular noncompaction Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Dilated cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Muscular hypotonia Dilatation Myopathy Cataract Growth delay Global developmental delay Seizures Intellectual disability Agenesis of corpus callosum Arrhythmia Mitral regurgitation Atrial septal defect Strabismus Optic atrophy Gait disturbance Pectus excavatum Anteriorly placed anus Skeletal muscle atrophy Scoliosis Ventricular septal defect Ventricular fibrillation Atrial fibrillation Microphthalmia Sensorineural hearing impairment Abnormal facial shape Microcephaly Ventricular hypertrophy Hearing impairment Aplasia/Hypoplasia of the corpus callosum Abnormal left ventricle morphology Short stature

Rare Symptoms - Less than 30% cases


Anencephaly Increased variability in muscle fiber diameter Feeding difficulties Bradycardia Blepharophimosis Pachygyria Abnormal cardiac septum morphology Wide nose Coloboma Retinal dysplasia Hypertrophic cardiomyopathy Dyspnea Micropenis Hypogonadism Myocardial fibrosis Hypospadias Midface retrusion Abnormality of cardiovascular system morphology Failure to thrive Micrognathia Sacral dimple Wide nasal bridge Abnormality of retinal pigmentation Abnormality of the anus Patent foramen ovale Coarctation of aorta Mandibular prognathia Feeding difficulties in infancy Decreased body weight Wide anterior fontanel Self-injurious behavior Spinal canal stenosis Delayed closure of the anterior fontanelle Bicuspid aortic valve Delayed skeletal maturation Aortic arch aneurysm Ebstein anomaly of the tricuspid valve Pulmonary arterial hypertension Atrioventricular block Left ventricular failure Left ventricular noncompaction cardiomyopathy Ventricular arrhythmia Reduced systolic function Cerebral cortical atrophy Kyphosis Clitoral hypertrophy Hypertelorism Tricuspid regurgitation Dysphasia Absent septum pellucidum Ocular albinism Abnormality of the testis Colpocephaly Periventricular leukomalacia Brain atrophy Cognitive impairment Hypoplasia of the corpus callosum High palate Depressed nasal bridge Epicanthus Brachydactyly Downslanted palpebral fissures Frontal bossing Abnormality of the skeletal system Anteverted nares Cerebellar vermis hypoplasia Neurological speech impairment Cardiomegaly Macrocephaly Respiratory distress Myopia Hepatic steatosis Camptodactyly of finger Motor delay Flexion contracture Skeletal muscle hypertrophy Calf muscle hypertrophy Sudden cardiac death Elevated serum creatine phosphokinase Abnormality of the pinna Neonatal hypotonia Generalized amyotrophy EEG abnormality Glaucoma Brachycephaly Wolff-Parkinson-White syndrome Spinal rigidity Congenital glaucoma Visual impairment Pes cavus Histiocytoid cardiomyopathy Supraventricular tachycardia Polymicrogyria Pulmonic stenosis Skeletal myopathy Hypermetropia Hypoglycosylation of alpha-dystroglycan Infantile muscular hypotonia Tachycardia Intellectual disability, severe Delayed speech and language development Abnormality of the cerebral white matter Proximal muscle weakness Hyperlordosis Corneal opacity Muscular dystrophy Peters anomaly Stereotypy Telangiectasia Tetraparesis Abnormality of the ribs Optic disc pallor Large fontanelles Heterotopia Hypsarrhythmia Depressed nasal ridge Hypertrichosis Interphalangeal joint contracture of finger Retinal detachment Short phalanx of finger Abnormality of vision Polyphagia Hypermelanotic macule Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Hand polydactyly Failure to thrive in infancy Pyloric stenosis Delayed gross motor development Pointed chin Scrotal hypoplasia Abnormal myocardium morphology Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Tetralogy of Fallot Spastic tetraparesis Narrow palpebral fissure Generalized hirsutism Hypoplasia of penis Cleft upper lip Abnormal blistering of the skin Behavioral abnormality Prominent forehead Posteriorly rotated ears Constipation Clinodactyly of the 5th finger Patent ductus arteriosus Clinodactyly Obesity Absent speech Cerebral atrophy Malar flattening Long philtrum Dysphagia Narrow mouth Low-set ears Cryptorchidism Cleft palate Nystagmus Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Upslanted palpebral fissure Autism Epileptic encephalopathy Small for gestational age Hip dysplasia Abnormality of the skin Intestinal malrotation Delayed myelination Bifid uvula Renal cyst Short foot Oral cleft High hypermetropia Poor speech Synophrys Microtia Hypothyroidism Abnormality of the liver Joint stiffness Abnormality of the eye Camptodactyly Abnormality of the kidney Low-set, posteriorly rotated ears Aggressive behavior Hydronephrosis Conductive hearing impairment Deeply set eye Gastroesophageal reflux Macule Self-mutilation Infantile spasms Abnormal parietal bone morphology Hypokinesia Left ventricular hypertrophy Cardiac arrest Ventricular tachycardia Hypoplastic left heart Hypertension Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Hyperplastic labia majora Ataxia Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Right ventricular dilatation Pain Cranial nerve VI palsy Paroxysmal ventricular tachycardia Pulmonary artery hypoplasia Cardiogenic shock First degree atrioventricular block T-wave inversion Left bundle branch block Pulmonary artery stenosis Pulmonary embolism Coronary artery atherosclerosis Shock Stroke Premature atrial contractions Fatigue Sinus bradycardia Atrial flutter Myocarditis Abnormal EKG Thromboembolism Amyloidosis Abnormality of the thyroid gland Pericardial effusion Bundle branch block Chest pain Noncompaction cardiomyopathy Abnormal social behavior Abnormal heart valve morphology Arnold-Chiari type I malformation Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Stooped posture Overweight Dilation of lateral ventricles Epileptic spasms Abnormal lung lobation Foot polydactyly Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Neuroblastoma Slender long bone Telangiectasia of the skin Abnormality of the immune system 11 pairs of ribs Delayed CNS myelination Talipes valgus Abnormality of female external genitalia Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Gastric ulcer Abnormality of the mandible Lambdoidal craniosynostosis Volvulus Impaired social interactions Abnormal corpus callosum morphology Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal renal physiology Thickened helices Rib fusion Abnormality of the spleen Redundant neck skin Pseudoepiphyses of the metacarpals Abnormal mitral valve morphology Cataplexy Status epilepticus Hypopigmented skin patches Abnormal glycosylation Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Amblyopia Fatty replacement of skeletal muscle Congenital diaphragmatic hernia Dermal atrophy Ambiguous genitalia Mitral valve prolapse Pigmentary retinopathy Specific learning disability Hypopigmentation of the skin Retinal dystrophy Iris coloboma Moderately reduced ejection fraction Abnormality of skin pigmentation Anal atresia Mutism Neck flexor weakness Skin rash Sclerocornea Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Reduced tendon reflexes Limb-girdle muscular dystrophy Echolalia Abnormal eyelid morphology Gowers sign Male pseudohermaphroditism Motor deterioration Abnormal eyelash morphology Posterior embryotoxon Aplasia cutis congenita Aplasia/Hypoplasia of the skin Abnormality of the ear Hypoplasia of the uterus Aphasia Albinism Preauricular pit Anophthalmia Nail dystrophy Muscle fiber hypertrophy Overriding aorta Arthrogryposis multiplex congenita Ankle contracture Dolichocephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Cortical dysplasia Multiple joint contractures Mask-like facies Hypoplasia of the brainstem Congenital muscular dystrophy Plagiocephaly Buphthalmos Lissencephaly Holoprosencephaly Knee flexion contracture Hemivertebrae EMG abnormality Congenital hip dislocation Preauricular skin tag Congenital cataract Encephalocele Generalized muscle weakness Hip dislocation Cerebellar dysplasia Reduced muscle fiber merosin Syndactyly Erythema Retrognathia Intrauterine growth retardation Respiratory failure Severe short stature Abnormal heart morphology Visual loss Respiratory insufficiency Hernia Abnormality of metabolism/homeostasis Blindness Type II lissencephaly Areflexia Cerebellar hypoplasia Rigidity Apnea Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Agyria Cerebellar cyst Exaggerated startle response Scapular winging Mandibular aplasia Hyperconvex fingernails Redundant skin Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Decreased activity of mitochondrial complex I Prominent supraorbital ridges Coarse hair Progressive spasticity Schizophrenia Sleep apnea Widely spaced teeth Cutis laxa Narrow palate Coxa valga Abnormality of the hair Increased mitochondrial number Abnormal form of the vertebral bodies Open mouth Broad hallux Abnormality of digit Psychosis Abnormal aortic valve morphology Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Endocardial fibroelastosis Broad palm Craniofacial hyperostosis Abnormal cerebellum morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Severe sensorineural hearing impairment Abnormal atrioventricular conduction Atonic seizures Thickened calvaria Thick lower lip vermilion Dental malocclusion Abnormality of the penis Anal fistula Inguinal hernia Hyporeflexia Intellectual disability, mild Hypertonia Myalgia Peripheral neuropathy Falls Waddling gait Lumbar hyperlordosis Frequent falls Asymmetric, linear skin defects Macrotia Cleft earlobe Abnormality of the rectum Vitritis Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Talipes equinovarus Kyphoscoliosis Short metacarpal Thick eyebrow Tetraplegia Hypoplasia of the maxilla Hypodontia Delayed eruption of teeth Single transverse palmar crease Tapered finger Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Joint hypermobility Coarse facial features Joint hyperflexibility Severe global developmental delay Hypoplasia of the retina Pectus carinatum Wide mouth Protruding ear Acute tubular necrosis Mental deterioration Telecanthus Pes planus ST segment depression



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