Hydrocephalus, and Atrial fibrillation

Diseases related with Hydrocephalus and Atrial fibrillation

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

Top matches:

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Medium 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

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Other less relevant matches:

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

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

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Atrial fibrillation

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Atrial fibrillation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Myopathy Intellectual disability Hypertrophic cardiomyopathy Left ventricular noncompaction Global developmental delay Scoliosis Ventricular hypertrophy Sudden cardiac death Renal insufficiency Bradycardia Ventricular septal defect Muscular hypotonia Dilatation Failure to thrive Seizures Microphthalmia Growth delay Cardiomegaly Atrial flutter

Rare Symptoms - Less than 30% cases

Abnormality of the skin Short neck Absent speech Abnormal heart morphology Pectus excavatum Hernia Abnormality of cardiovascular system morphology Pyloric stenosis Redundant skin Kyphoscoliosis Tetraplegia Edema Atrial septal defect Downslanted palpebral fissures Frontal bossing Flexion contracture Macrocephaly Hepatomegaly Epicanthus Tricuspid regurgitation Depressed nasal bridge Large for gestational age Low-set ears Ptosis Micrognathia Neoplasm Hypertelorism Growth hormone deficiency Delayed skeletal maturation Spinal rigidity Short stature Abnormality of the hair Nevus Overgrowth Pulmonary arterial hypertension Ascites Epidermal acanthosis Muscle weakness Thick vermilion border Joint hypermobility Reduced systolic function Skeletal myopathy Pulmonic stenosis Sinus bradycardia Hyperlordosis Postnatal growth retardation Ventricular arrhythmia Hypertriglyceridemia Palpitations Joint laxity Abnormality of the nervous system Osteopenia Acanthosis nigricans Cutis laxa Ventricular fibrillation Lipodystrophy Atrioventricular block Hemangioma Arnold-Chiari malformation Hyperhidrosis Osteoporosis Generalized hypotonia Cognitive impairment Severe postnatal growth retardation Large earlobe Megalencephaly Vesicoureteral reflux Arterial stenosis Achilles tendon contracture Stroke Shock Multicystic kidney dysplasia Body odor Capillary malformation Hepatic steatosis Arnold-Chiari type I malformation Syringomyelia Dysphagia Myopia High palate Retinal detachment Tendon rupture Progressive macrocephaly Postaxial hand polydactyly Pericardial effusion Bundle branch block Increased variability in muscle fiber diameter Abnormality of the thyroid gland Telangiectasia Purpura Cutaneous syndactyly Ischemic stroke Reduced bone mineral density Nephroblastoma Cutis marmorata Postaxial polydactyly Smooth philtrum Amyloidosis Premature atrial contractions Bicuspid aortic valve Polydactyly Coarctation of aorta Proximal muscle weakness Patent ductus arteriosus Deeply set eye Paroxysmal ventricular tachycardia Broad forehead Thromboembolism Leukemia Finger syndactyly Left ventricular failure Toe syndactyly Myocarditis Abnormal EKG Oral cleft Polymicrogyria Cortical dysplasia Nevus flammeus Abnormality of digit Increased corneal curvature Skin erosion Left ventricular hypertrophy Right aortic arch Asymmetric growth Systolic heart murmur High forehead Perisylvian polymicrogyria Dyspnea Wide nasal bridge Cavum septum pellucidum Blue nevus Subcutaneous hemorrhage Short lower limbs Facial hemangioma Cutis marmorata telangiectatica congenita Intrauterine growth retardation Hemimegalencephaly Leukocoria Vascular ring Hypokinesia Thickened Achilles tendon Aplasia/Hypoplasia of the skin Varicose veins Syndactyly Multiple cafe-au-lait spots Telangiectasia of the skin Displacement of the external urethral meatus Alveolar rhabdomyosarcoma Severe failure to thrive Capillary hemangioma Meningioma Chest pain Abnormality of the lower limb Congenital neuroblastoma Arteriovenous malformation Fatigue Hemihypertrophy Abnormality of the upper limb Dilation of lateral ventricles Pain Ataxia Lymphangiectasis Right ventricular dilatation Hypothyroidism Elbow flexion contracture Coronary artery atherosclerosis Pancreatitis Growth hormone excess IgA deficiency Secondary amenorrhea Glomerulopathy Lipoatrophy Skeletal muscle hypertrophy Large hands Hyperinsulinemia Precocious puberty Prominent supraorbital ridges Polycystic ovaries Atherosclerosis Accelerated skeletal maturation Oligomenorrhea Generalized hirsutism Muscle stiffness Insulin resistance Thickened skin Myocardial infarction Recurrent fractures Nephropathy Hirsutism Hepatic failure Cirrhosis Abnormality of skin pigmentation Abnormality of the foot Myalgia Progressive proximal muscle weakness Broad foot Mandibular prognathia Ventricular tachycardia Hypoplasia of the retina Increased mitochondrial number Histiocytoid cardiomyopathy Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Endocardial fibroelastosis Peters anomaly Abnormal myocardium morphology Wolff-Parkinson-White syndrome Supraventricular tachycardia Congenital glaucoma Hypoplastic left heart Cardiac arrest Prominent superficial veins Corneal opacity Agenesis of corpus callosum Abnormality of skeletal muscle fiber size Congenital generalized lipodystrophy Abnormal levels of creatine kinase in blood Abnormal oral cavity morphology Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Prolonged QTc interval Generalized lipodystrophy Bone cyst Exercise-induced myalgia Elevated hepatic transaminase Diabetes mellitus Pulmonary embolism Elevated serum creatine phosphokinase Myotonia Limb-girdle muscular dystrophy Back pain EMG: myopathic abnormalities Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Scapular winging Myofiber disarray Waddling gait Ichthyosis Muscular dystrophy Joint stiffness Obesity Exertional dyspnea Kyphosis Gait disturbance Ebstein anomaly of the tricuspid valve ST segment depression Pulmonary artery hypoplasia Left ventricular noncompaction cardiomyopathy Aortic arch aneurysm Cardiogenic shock First degree atrioventricular block Abnormal left ventricle morphology T-wave inversion Left bundle branch block Pulmonary artery stenosis Toe walking Rimmed vacuoles Recurrent infections Proximal muscle weakness in upper limbs Immunodeficiency Splenomegaly Peripheral neuropathy Restricted neck movement due to contractures Weakness of facial musculature Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Pelvic girdle muscle atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Peroneal muscle weakness Ventricular escape rhythm Proximal lower limb amyotrophy Sprengel anomaly Tip-toe gait Peroneal muscle atrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Reduced ejection fraction Limb-girdle muscle weakness Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Ankle contracture Vitreomacular adhesion Fasting hypoglycemia Enlarged cerebellum Nystagmus Anteverted nares Talipes equinovarus Abnormality of the skeletal system Dysarthria Hypertension Motor delay Delayed speech and language development Feeding difficulties Cryptorchidism Abnormal facial shape Strabismus Gustatory lacrimation Abnormality of the dentition Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Respiratory insufficiency Intellectual disability, mild Cochlear malformation Coarse facial features Arthrogryposis multiplex congenita Pectus carinatum Sparse hair Wide mouth Irritability Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Intellectual disability, moderate Carcinoma Hypoglycemia Gastroesophageal reflux Short nose Polyhydramnios Proptosis Hyperkeratosis Respiratory failure Cerebral cortical atrophy Hypogonadism Posteriorly rotated ears Severe short stature Pes cavus Inguinal hernia Cerebral atrophy Long philtrum Hypoplasia of the cochlea Renal malrotation Delayed puberty Cleft palate Pulmonary hypoplasia Flat face Long face Microtia Paralysis Abnormality of the pinna Abnormality of the kidney Facial palsy Hydronephrosis Conductive hearing impairment Retrognathia Sensorineural hearing impairment Intestinal malrotation Hearing impairment Sclerotic vertebral endplates Contractures of the large joints Venous insufficiency Abnormality of the thumb Macroorchidism Multiple joint contractures Aortic valve stenosis Intellectual disability, profound Spastic tetraplegia Macrotia Spasticity Bifid uvula Renal agenesis Branchial fistula Ectopic kidney Arteria lusoria Branchial cyst Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Preauricular pit Microdontia Epiphora Cupped ear Polycystic kidney dysplasia Atresia of the external auditory canal Renal hypoplasia/aplasia Congenital hip dislocation Narrow face Preauricular skin tag Renal dysplasia Renal hypoplasia Bilateral sensorineural hearing impairment Oligohydramnios Hypermetropia Joint hyperflexibility Macrocephaly at birth Asymmetric septal hypertrophy Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Broad philtrum Abnormal mitral valve morphology Deep palmar crease Bronchomalacia Labial hypoplasia Redundant neck skin Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Large forehead Thick upper lip vermilion Woolly hair Progeroid facial appearance Barrel-shaped chest Fragile nails Fetal distress Papilloma Microscopic hematuria Transitional cell carcinoma of the bladder Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Concentric hypertrophic cardiomyopathy Large face Hypopnea Shyness Postprandial hyperglycemia Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Thickened nuchal skin fold Obstructive sleep apnea Astigmatism Mitral valve prolapse Hoarse voice Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Hypoplasia of dental enamel Thick lower lip vermilion Apraxia Eczema Narrow palate Hip dysplasia Webbed neck Premature birth Full cheeks Sepsis Macroglossia Postural instability Sleep disturbance High, narrow palate Hematuria Wide nose Tachycardia Pointed chin Abnormality of dental enamel Soft skin Hypoplastic toenails Neonatal hypoglycemia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Rocker bottom foot Bilateral cryptorchidism Short chin Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Failure to thrive in infancy Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Infantile muscular hypotonia Abnormal dermatoglyphics Abnormality of the fingernails Acute tubular necrosis


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