Hydrocephalus, and Sudden cardiac death

Diseases related with Hydrocephalus and Sudden cardiac death

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

Top matches:

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 ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Other less relevant matches:

Medium match OSTEOCRANIOSTENOSIS

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

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

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:

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


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Sudden cardiac death

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cardiac arrest Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Sudden cardiac death. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Kyphosis Muscular hypotonia Hyperlordosis Short neck Ventriculomegaly Scoliosis Short stature Cardiomyopathy Hypertelorism Epicanthus Anteverted nares Abnormality of the skeletal system Obesity Ptosis Coarse facial features Neurological speech impairment Pain Hypospadias Short nose Hepatomegaly Generalized hypotonia Pectus excavatum Hypothyroidism Hypertension Motor delay Cognitive impairment Abnormal facial shape Severe short stature Talipes equinovarus Inguinal hernia Depressed nasal bridge Congestive heart failure Agenesis of corpus callosum Splenomegaly Dilatation Umbilical hernia Dilated cardiomyopathy

Rare Symptoms - Less than 30% cases

Osteolysis Congenital hip dislocation Subcutaneous nodule High, narrow palate Sleep apnea Bundle branch block Bradycardia Thin vermilion border Increased CSF protein Tetraplegia Atrioventricular block Cough Facial palsy Osteopenia Arthritis Weight loss Hemoptysis Respiratory insufficiency Gait disturbance Sprengel anomaly Webbed neck Macroglossia Facial asymmetry Hypothermia Sinus bradycardia Proptosis Mandibular prognathia Edema Flexion contracture Pleural effusion Hearing impairment Fatigue Hernia Palpitations Ankyloglossia Spasticity Abnormal heart valve morphology Redundant skin Ascites Dyspnea Glaucoma Polyhydramnios Skeletal dysplasia Myopathy Cryptorchidism Abnormality of the dentition Chest pain Cleft palate Hypertrophic cardiomyopathy Gingival overgrowth Abnormality of cardiovascular system morphology Atrial fibrillation Alopecia Ventricular septal defect Vertigo Joint hyperflexibility Clonus Dysarthria Brachydactyly Intrauterine growth retardation Frontal bossing Hyperhidrosis Aplasia/Hypoplasia of the abdominal wall musculature Pneumothorax Disproportionate short-limb short stature Bowing of the long bones Blindness Failure to thrive Joint stiffness Lumbar hyperlordosis Abnormality of the ribs Limb undergrowth Dental malocclusion Short palm Micromelia Hyperreflexia Flared metaphysis Skeletal myopathy Cataract Aplasia/hypoplasia of the extremities Ventricular fibrillation Ventricular tachycardia Cardiomegaly Left ventricular noncompaction Narrow sacroiliac notch Ataxia Corneal opacity Microphthalmia Growth delay Atrial septal defect Ventricular arrhythmia Cervical ribs Hypoglycemia Penoscrotal hypospadias Broad toe Embryonal neoplasm Hepatoblastoma Meckel diverticulum Chordee Pancreatic islet-cell hyperplasia Hydronephrosis Premature delivery because of cervical insufficiency or membrane fragility Increased IgE level Ureteral duplication Flared iliac wings Abnormality of the helix Furrowed tongue Short 2nd finger Short sacroiliac notch Downslanted palpebral fissures Upslanted palpebral fissure Intellectual disability, severe Wide nasal bridge Syndactyly Patent ductus arteriosus Two carpal ossification centers present at birth Abnormal heart morphology Clinodactyly of the 5th finger Micrognathia Neoplasm Ventricular hypertrophy Cyst of the ductus choledochus Cleft lower lip Posterior helix pit Polydactyly Submucous cleft lip Cleft lip Hypermobility of distal interphalangeal joints Six lumbar vertebrae Duplication of renal pelvis Hemothorax Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge 2-3 finger syndactyly Hypoplasia of penis Irritability Renal neoplasm Bifid uvula Postaxial polydactyly Accelerated skeletal maturation Narrow palpebral fissure Multicystic kidney dysplasia Hoarse voice Thick vermilion border Retinal detachment Short toe Preauricular skin tag Short foot Increased variability in muscle fiber diameter Renal cyst Broad nasal tip Tall stature Abnormality of the hand Renal dysplasia Broad thumb Abnormality of the genital system Clumsiness Omphalocele Intestinal malrotation Cerebellar vermis hypoplasia Nail dysplasia Dandy-Walker malformation Overgrowth Small nail Congenital diaphragmatic hernia Postaxial hand polydactyly Relative macrocephaly Wide nose Low-set, posteriorly rotated ears Neuroblastoma Wide mouth Camptodactyly of finger Duodenal atresia Finger syndactyly Diastasis recti Congenital cataract Polysplenia Low hanging columella Broad foot Enlarged kidney Abnormal lung lobation Toe syndactyly Pulmonic stenosis Transposition of the great arteries Abnormality of the voice Broad palm Abnormality of digit Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Cleft upper lip Hydroureter Bilateral talipes equinovarus Large for gestational age Preauricular pit Cupped ear Short distal phalanx of finger Nephroblastoma Cerebral visual impairment Vocal cord paralysis Pericardial effusion Uveitis Interstitial pulmonary abnormality Abnormality of the musculature Hyperthyroidism Hyperuricemia Keratoconjunctivitis sicca Optic neuropathy Joint swelling Chorioretinal atrophy Heart block Tubulointerstitial nephritis Abnormality of the gastrointestinal tract Upper airway obstruction Macular edema Immune dysregulation Elevated erythrocyte sedimentation rate Increased antibody level in blood Skin nodule Eosinophilia Bronchiectasis Anorexia Hyperpigmentation of the skin Decreased liver function Nephrocalcinosis Leukopenia Hypercalciuria Blurred vision Hypercalcemia Portal hypertension Inflammation of the large intestine Epiphora Diabetes insipidus Emphysema Pulmonary fibrosis Bone cyst Night sweats Abnormal lung morphology Parotitis Abnormality of skin morphology Posterior vitreous detachment Enlargement of parotid gland Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Abnormal liver parenchyma morphology Abnormal cardiac ventricular function Vitritis Increased T cell count Abnormality of the nasal mucosa Maculopapular exanthema Enlarged lacrimal glands Vitreous snowballs Pulmonary granulomatosis Abnormal reproductive system morphology Vitreous floaters Anterior synechiae of the anterior chamber Generalized lymphadenopathy Abnormality of the pleura Vitreous hemorrhage Chylothorax Cystoid macular edema Abnormality of the cerebrospinal fluid Erythema nodosum Skin plaque Abnormal conjunctiva morphology Abnormality of the lymph nodes Abnormality of the adrenal glands Chorioretinitis Dacryocystitis Anterior uveitis Abnormal salivary gland morphology Iridocyclitis Nephrolithiasis Pancytopenia Abnormality of the thyroid gland Spinal rigidity Back pain Lipodystrophy Limb-girdle muscular dystrophy Myotonia Toe walking Exertional dyspnea Rimmed vacuoles Reduced tendon reflexes Ankle contracture Hypoplastic lacrimal duct Proximal amyotrophy Distal lower limb amyotrophy Limb-girdle muscle weakness Achilles tendon contracture EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Distal lower limb muscle weakness Reduced systolic function Amyloidosis Thromboembolism Abnormal EKG Myocarditis Atrial flutter Left ventricular failure Premature atrial contractions Scapular winging Paroxysmal ventricular tachycardia Elevated serum creatine phosphokinase Muscular dystrophy Ichthyosis Waddling gait Hypertriglyceridemia Elbow flexion contracture Reduced ejection fraction Proximal muscle weakness in lower limbs Syncope Proximal muscle weakness Skeletal muscle atrophy Respiratory distress Renal insufficiency Headache Thrombocytopenia Photophobia Erythema Peripheral neuropathy Scarring Papule Lymphadenopathy Hepatic failure Hemolytic anemia Hypopigmentation of the skin Fever Visual impairment Pelvic girdle muscle weakness Ventricular escape rhythm Supraventricular arrhythmia Increased LDL cholesterol concentration Peroneal muscle atrophy Tip-toe gait Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Peroneal muscle weakness Anemia Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Pelvic girdle muscle atrophy Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Weakness of facial musculature Restricted neck movement due to contractures Cystocele Melanocytic nevus Arteriovenous fistulas of celiac and mesenteric vessels Muscle fibrillation Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Megalencephaly Poor coordination Drowsiness Atrophy/Degeneration affecting the brainstem Progressive spasticity Clinodactyly Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Diplopia Cerebral calcification Microcephaly Pneumonia Amenorrhea Hypokinesia Hypertonia Hypoplastic spleen Overtubulated long bones Thin clavicles Lethal skeletal dysplasia Cloverleaf skull Decreased skull ossification Short hallux Asplenia Radial bowing Severe intrauterine growth retardation Aniridia Thin ribs Slender long bone Hyperostosis Prominent forehead Growth abnormality Hypocalcemia Progressive microcephaly Decreased fetal movement Oligohydramnios Ambiguous genitalia Abdominal distention Recurrent fractures Pulmonary hypoplasia Polymicrogyria Small for gestational age Short philtrum Craniosynostosis Micropenis Peripheral demyelination Hypotension Recurrent infections Midface retrusion Chronic otitis media Elbow dislocation Abnormality of pelvic girdle bone morphology Genu varum Short long bone Acanthosis nigricans Wormian bones Rhizomelia Dental crowding Abnormal form of the vertebral bodies Abnormality of the metaphysis Narrow chest Apnea Conductive hearing impairment Malar flattening Limited elbow extension Acute tubular necrosis 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 Hepatic steatosis Mesomelia Disproportionate short stature Chorea Depressivity Gliosis Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Abnormal pyramidal sign Developmental regression EEG abnormality Respiratory failure Diabetes mellitus Dementia Constipation Hyporeflexia Vomiting Spinal canal stenosis Childhood onset short-limb short stature Obstructive sleep apnea Abnormality of the elbow Large forehead Diaphyseal thickening Neonatal short-limb short stature Long thorax Abnormality of the ilium Dysphagia Acromelia Nystagmus Muscle weakness High palate Feeding difficulties Tremor Intellectual disability, mild Kyphoscoliosis Uterine prolapse Keratoconus Hematochezia Abnormally large globe Periodontitis Aortic dissection Gingivitis Transient ischemic attack Narrow nose Abnormal eyelash morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Alopecia of scalp Premature loss of teeth Esophageal atresia Prematurely aged appearance Scleroderma Osteolytic defects of the phalanges of the hand Abnormal joint morphology Fragile skin Telangiectasia of the skin Narrow nasal bridge Macule Aplasia/Hypoplasia of the eyebrow Rheumatoid arthritis Aortic aneurysm Hypokalemia Abnormality of the urinary system Tinnitus Abnormal intestine morphology Short chin Joint dislocation Varicose veins Reduced consciousness/confusion Abnormality of the face Arterial dissection Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Internal hemorrhage Aplasia/Hypoplasia of the earlobes Colonic diverticula Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Bladder diverticulum Abnormal pupil morphology Telangiectasia Thin skin Hepatosplenomegaly Broad-based gait Dysostosis multiplex Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hypoplasia of the odontoid process Hyperactive deep tendon reflexes Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Pterygium Recurrent upper respiratory tract infections Widely spaced teeth Opacification of the corneal stroma Hydrops fetalis Hypertrichosis Broad ribs Spastic tetraplegia Hip dysplasia Neurodegeneration Hirsutism Thick eyebrow Genu valgum Poor speech Platyspondyly Pectus carinatum Respiratory tract infection Postnatal growth retardation Intellectual disability, moderate Muscular hypotonia of the trunk Abnormality of the nervous system Nonimmune hydrops fetalis Recurrent ear infections Osteoarthritis Telecanthus Blue sclerae Mitral valve prolapse Microdontia Abnormality of the skin Migraine Premature birth Abnormal bleeding Bruising susceptibility Flat face Joint hypermobility Abnormality of skin pigmentation Carious teeth Hip dislocation Protruding ear Deeply set eye Pulmonary insufficiency Heparan sulfate excretion in urine Thoracolumbar kyphosis Acetabular dysplasia Prominent sternum Thoracic kyphoscoliosis J-shaped sella turcica Narrow greater sacrosciatic notches Snoring Narrow mouth Pseudoarthrosis Dermatan sulfate excretion in urine Anterior beaking of lumbar vertebrae Decreased pulmonary function Proximal tapering of metacarpals Anterior beaking of lower thoracic vertebrae Abnormal trabecular meshwork morphology


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