Hydrocephalus, and Stroke

Diseases related with Hydrocephalus and Stroke

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

Top matches:

Medium match B4GALT1-CDG

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Other less relevant matches:

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

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

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

Medium match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Stroke

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Glaucoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Vomiting Behavioral abnormality Arnold-Chiari malformation Polymicrogyria Dilatation Headache Arrhythmia Stroke-like episode Ventriculomegaly Cardiomegaly Hypertelorism Retinal detachment Gingival overgrowth Hypertension Abnormality of the skin Hemiparesis Nevus Muscular hypotonia Mental deterioration Pain Neoplasm Congestive heart failure

Rare Symptoms - Less than 30% cases

Cortical dysplasia Aortic aneurysm Subcutaneous nodule Hearing impairment Sleep disturbance Dyspnea Hypothyroidism Cardiomyopathy Myelopathy Constrictive median neuropathy Syringomyelia Diarrhea Renal insufficiency Transient ischemic attack Rheumatoid arthritis Spastic paraparesis Ischemic stroke Sensorineural hearing impairment Hemiplegia Migraine Gliosis Cerebral hemorrhage Arthritis Constipation Abnormality of the respiratory system Nephroblastoma Hernia Pneumothorax Carious teeth Flexion contracture Respiratory insufficiency Abnormality of the dentition Inguinal hernia Proptosis Umbilical hernia Abnormality of skin pigmentation Large earlobe High, narrow palate Microdontia Sleep apnea Abnormal heart valve morphology Gingivitis Abnormality of the gingiva Short stature Varicose veins Scoliosis Edema Growth delay Micrognathia Depressed nasal bridge Epicanthus Wide nasal bridge Frontal bossing Abnormality of cardiovascular system morphology Telangiectasia of the skin Exotropia Deeply set eye Joint hypermobility Thick vermilion border Telangiectasia Redundant skin Cerebral palsy Arterial stenosis Capillary hemangioma Generalized hypotonia Abnormality of eye movement Facial hemangioma Prominent forehead Irritability Dysarthria Communicating hydrocephalus Cerebral calcification Nevus flammeus Strabismus Hemianopia Corneal dystrophy Hemangioma Cafe-au-lait spot Abnormality of the cerebral white matter Normal pressure hydrocephalus Cerebral cortical atrophy Blindness Spasticity Renal cyst Elevated serum creatine phosphokinase Mitral valve prolapse Abnormal pyramidal sign Autistic behavior Attention deficit hyperactivity disorder Interphalangeal joint contracture of finger Coarse facial features Hepatosplenomegaly Broad nasal tip Elevated hepatic transaminase Skeletal dysplasia Lumbar hyperlordosis Conductive hearing impairment Apnea Pallor Intellectual disability, profound Kyphoscoliosis Osteopenia Myocardial infarction Wide mouth Abdominal pain Pes cavus Progressive neurologic deterioration Recurrent respiratory infections Pneumonia Visual loss Depressivity Long philtrum Kyphosis Joint stiffness Camptodactyly of finger Craniosynostosis Dry skin Delayed eruption of teeth Full cheeks Neurodegeneration Everted lower lip vermilion Inability to walk Wide nose Asthma Hirsutism Limitation of joint mobility Thick eyebrow Retinal degeneration Genu valgum Retinopathy Hip dysplasia Synophrys Splenomegaly Progressive visual loss Abnormality of the cardiovascular system Dolichocephaly Severe global developmental delay Corneal opacity Abnormality of the ribs Pectus carinatum Nyctalopia Macroglossia Tetraparesis Feeding difficulties Short neck Aortic dissection Abnormality of hair texture Ocular pain Premature loss of primary teeth Periorbital edema Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Hematochezia Abnormally large globe Periodontitis Myopathy Ascending tubular aorta aneurysm Narrow nose Abnormal eyelash morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Alopecia of scalp Premature loss of teeth Sprengel anomaly Esophageal atresia Hemoptysis Prematurely aged appearance Keratoconus Scleroderma Abnormal joint morphology Fragile skin Excessive wrinkled skin Dermal translucency Anteverted nares Arterial rupture Abnormality of the skeletal system Skeletal muscle atrophy Hepatomegaly Delayed speech and language development Recurrent otitis media Abnormal facial shape Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Foot acroosteolysis Gastrointestinal infarctions Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Internal hemorrhage Colonic diverticula Abnormal oral frenulum morphology Hypertrichosis Left ventricular hypertrophy Split hand Flared nostrils Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Narrow pelvis bone Short mandibular rami Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Urinary glycosaminoglycan excretion Cervical kyphosis Rhinorrhea Delayed tarsal ossification Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Abnormality of joint mobility Abnormal CNS myelination Abnormality of the tonsils Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Hypoplasia of the femoral head Calcification of falx cerebri C1-C2 subluxation Broad ischia Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Abnormality of lysosomal metabolism Flaring of rib cage Broad femoral neck Abnormality of peripheral nerve conduction Mitral regurgitation Widely spaced teeth Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Metatarsus adductus Toe walking Heart murmur Stridor Language impairment Back pain Prominent supraorbital ridges Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Progressive hearing impairment Aortic regurgitation Thickened calvaria Thickened skin Abnormal form of the vertebral bodies Encephalocele Decreased body weight Macule Chronic diarrhea Long eyelashes Abnormality of epiphysis morphology Coxa vara Abnormal vertebral morphology Elbow flexion contracture Generalized hirsutism Coxa valga Abnormality of dental enamel Opacification of the corneal stroma Restrictive ventilatory defect Arthropathy Sagittal craniosynostosis Tracheal stenosis Hypoplasia of teeth Abnormal aortic valve morphology Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Beaking of vertebral bodies Dysostosis multiplex Spinal canal stenosis Protuberant abdomen Rhinitis Thoracic scoliosis Protruding tongue Short clavicles Hypoplasia of the odontoid process Palpebral edema Peripheral visual field loss Diastasis recti Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Obstructive sleep apnea Abnormality of the skull Abnormality of the clavicle Narrow nasal bridge Abnormality of the face Aplasia/Hypoplasia of the eyebrow Psychomotor deterioration Intellectual disability, moderate Carcinoma Abnormality of vision Autism Respiratory failure Hyperactivity Intellectual disability, mild Respiratory distress Hyperostosis Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Urinary retention Skin rash Sensory ataxia Abnormal renal physiology Pulmonary embolism Hearing abnormality Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Abnormality of the kidney Cough Heterochromia iridis Hamartoma Fibroma Chylothorax Gingival fibromatosis Astrocytoma Brain neoplasm Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Neurological speech impairment Skin tags Hyperventilation Renal cell carcinoma Infantile spasms Nausea Iris coloboma Precocious puberty Polycystic kidney dysplasia CNS hypomyelination Tachypnea Hypoplasia of dental enamel Heterotopia Generalized-onset seizure Specific learning disability Focal-onset seizure Brain atrophy Chest pain Hypopigmentation of the skin Venous thrombosis Impotence Cachexia Flank pain Nuclear cataract Hypertonia Muscle weakness Dystonia Nystagmus Ataxia Babinski sign Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Pontocerebellar atrophy Primitive reflex Porencephalic cyst Facial paralysis Peripheral neuropathy Cerebellar hypoplasia Hypoplasia of the iris Posterior embryotoxon Restlessness Limb dystonia Visual field defect Opisthotonus Dysphasia Hemolytic anemia Intracranial hemorrhage Hematuria Drooling Muscle cramps Leukoencephalopathy Visual impairment Fever Atrioventricular block Polyneuropathy Abnormality of the cerebral vasculature Paraparesis Abnormal autonomic nervous system physiology Vasculitis Hallucinations Abnormality of the retinal vasculature Bilateral sensorineural hearing impairment Peripheral demyelination Neuronal loss in central nervous system Hypotension Urinary incontinence Visceral angiomatosis Coma Nephropathy Tremor Peripheral axonal neuropathy Paresthesia Paraplegia Malabsorption Facial palsy Conjunctival telangiectasia Weight loss Dementia Abnormal choroid morphology Hyporeflexia Areflexia Cataract Anemia Cerebellar atrophy Adenoma sebaceum Shagreen patch Melanocytic nevus Subcutaneous hemorrhage Dilated fourth ventricle Ptosis Cryptorchidism Hydranencephaly Blue nevus Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Capillary malformation Short lower limbs Perisylvian polymicrogyria Aqueductal stenosis Asymmetric growth Right aortic arch Skin erosion Intraventricular hemorrhage Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Microcephaly Meningioma Megalencephaly Talipes equinovarus Hypospadias Severe postnatal growth retardation Abnormality of the coagulation cascade Hypokalemia Abnormality of the urinary system Tinnitus Dandy-Walker malformation Abnormal intestine morphology Osteolysis Short chin Joint dislocation Congenital hip dislocation Cardiac arrest Thin skin Osteoarthritis Blue sclerae Premature birth Pectus excavatum Abnormal bleeding Abnormality of coagulation Bruising susceptibility Flat face Thin vermilion border Intellectual disability, severe Vertigo Joint hyperflexibility Hip dislocation Protruding ear Telecanthus Narrow mouth Alopecia Spontaneous abortion Severe failure to thrive Arnold-Chiari type I malformation Ependymoma Achromatic retinal patches Syndactyly Ventricular septal defect Choroidal hemangioma Downslanted palpebral fissures Intrauterine growth retardation Arachnoid hemangiomatosis Hyperreflexia Low-set ears Optic atrophy Failure to thrive Dysphagia Abnormality of the eye Projection of scalp hair onto lateral cheek Subungual fibromas Buphthalmos Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Microphthalmia Abnormality of the vasculature Multiple cafe-au-lait spots Vesicoureteral reflux Aplasia/Hypoplasia of the skin Abnormality of digit Large for gestational age Cutis marmorata EEG abnormality Reduced bone mineral density Cutis laxa Cutaneous syndactyly Shock Purpura Multicystic kidney dysplasia Postaxial hand polydactyly Overgrowth Ascites Patent ductus arteriosus Postaxial polydactyly Congenital glaucoma Oral cleft Smooth philtrum Toe syndactyly Finger syndactyly Leukemia Broad forehead Postnatal growth retardation Joint laxity Abnormality of the nervous system High forehead Polydactyly Abnormal heart morphology Delayed ossification of the hand bones


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