Hydrocephalus, and Ischemic stroke

Diseases related with Hydrocephalus and Ischemic stroke

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


Top matches:

High match FAMILIAL PORENCEPHALY


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

High match CUTIS MARMORATA TELANGIECTATICA CONGENITA


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

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

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Other less relevant matches:

Medium match CRANIOPHARYNGIOMA


Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

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

Medium match HYDROCEPHALUS, CONGENITAL, 1; HYC1


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

Medium match STURGE-WEBER SYNDROME; SWS


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

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


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 STURGE-WEBER SYNDROME


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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Ischemic stroke

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Stroke Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arnold-Chiari malformation Polymicrogyria Arrhythmia Neoplasm Ventriculomegaly Cognitive impairment Stroke-like episode Nevus flammeus Abnormality of cardiovascular system morphology Headache Behavioral abnormality Vomiting Hemiparesis Glaucoma Muscular hypotonia Optic atrophy Telangiectasia of the skin Dilatation Deeply set eye

Rare Symptoms - Less than 30% cases


Redundant skin Syringomyelia Cutis marmorata Hypothyroidism Hemangioma Telangiectasia Nevus Retinal detachment Joint hypermobility Varicose veins Toe syndactyly Finger syndactyly Postnatal growth retardation High forehead Abnormality of the skin Visceral angiomatosis Arteriovenous malformation Impotence Pain Arthritis Cerebral cortical atrophy Normal pressure hydrocephalus Migraine Mental deterioration Blindness Gingival overgrowth Rheumatoid arthritis Orthostatic hypotension Sleep apnea Arterial stenosis Cerebral calcification Hypotension Coma Vertigo Constipation Hearing impairment Cerebral ischemia Joint hyperflexibility Facial hemangioma Asymmetric growth Frontal bossing Capillary hemangioma Transient ischemic attack Failure to thrive Elevated serum creatine phosphokinase Hemianopia Mitral valve prolapse Dysarthria Generalized hypotonia Spasticity Growth delay Hypertelorism Cortical dysplasia Depressed nasal bridge Cerebral hemorrhage Epicanthus Strabismus Abnormal pupil morphology Constrictive median neuropathy Multiple myeloma Malnutrition Premature loss of teeth Sprengel anomaly Esophageal atresia Prematurely aged appearance Hemoptysis Myelopathy Dilatation of the cerebral artery Keratoconus Scleroderma Abnormal joint morphology Fragile skin Abnormal heart valve morphology Alopecia of scalp Abnormal eyelash morphology Subarachnoid hemorrhage Bladder diverticulum Reduced consciousness/confusion Decreased number of peripheral myelinated nerve fibers Aplasia/Hypoplasia of the abdominal wall musculature Osteolytic defects of the phalanges of the hand Hematochezia Abnormally large globe Periodontitis Amyloidosis Aplasia/Hypoplasia of the earlobes Axonal degeneration Aortic dissection Narrow nasal bridge Gingivitis Aphasia Increased CSF protein Narrow nose Restrictive cardiomyopathy Dementia Abnormality of the urinary system Macule Carious teeth Abnormal bleeding High, narrow palate Bruising susceptibility Vitreous floaters Flat face Thin vermilion border Abnormality of skin pigmentation Hip dislocation Orthostatic hypotension due to autonomic dysfunction Protruding ear Telecanthus Cardiac amyloidosis Umbilical hernia Proptosis Narrow mouth Alopecia Inguinal hernia Premature birth Microdontia Aplasia/Hypoplasia of the eyebrow Short chin Melanocytic nevus Abnormal renal physiology Aortic aneurysm Hypokalemia Tinnitus Abnormal intestine morphology Sensory ataxia Osteolysis Joint dislocation Blue sclerae Congenital hip dislocation Cardiac arrest Subcutaneous nodule Abnormality of the face Urinary retention Thin skin Psychomotor deterioration Osteoarthritis Pneumothorax Abnormality of hair texture Periorbital edema Corneal dystrophy Peripheral axonal neuropathy Heterochromia iridis Nephropathy Hearing abnormality Polyneuropathy Pulmonary embolism Hyperostosis Abnormality of vision Venous thrombosis Abnormality of the retinal vasculature Iris coloboma Abnormality of eye movement Gliosis Urinary incontinence Neurological speech impairment Neuronal loss in central nervous system Attention deficit hyperactivity disorder Peripheral demyelination Abnormality of the cerebral vasculature Paresthesia Abnormality of the eye Facial palsy Areflexia Renal insufficiency Congestive heart failure Diarrhea Cardiomyopathy Weight loss Tremor Fever Peripheral neuropathy Conjunctival telangiectasia Visual impairment Muscle weakness Sensorineural hearing impairment Malabsorption Nystagmus Ataxia Paraplegia Abnormal choroid morphology Autistic behavior Dysphagia Cachexia Abnormal oral frenulum morphology Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Internal hemorrhage Colonic diverticula Abnormality of the gingiva Spastic paraparesis Pulmonary artery aneurysm Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Excessive wrinkled skin Hyporeflexia Ocular pain Premature loss of primary teeth Atrioventricular block Peripheral arteriovenous fistula Paraparesis Hyperreflexia Hallucinations Bilateral sensorineural hearing impairment Cardiomegaly Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Hypospadias Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Gingival recession Uterine prolapse Vasculitis Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Abnormal autonomic nervous system physiology Coronary artery aneurysm Pectus excavatum Neoplasm of the anterior pituitary Abnormality of the dentition Smooth philtrum Multicystic kidney dysplasia Postaxial hand polydactyly Overgrowth Vesicoureteral reflux Ascites Thick vermilion border Postaxial polydactyly Oral cleft Leukemia Shock Broad forehead Joint laxity Abnormality of the nervous system Polydactyly Abnormal heart morphology Patent ductus arteriosus Hernia Microphthalmia Purpura Cutaneous syndactyly Edema Megalencephaly Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Hemihypertrophy Abnormality of the lower limb Large earlobe Meningioma Severe failure to thrive Cutis laxa Severe postnatal growth retardation Arnold-Chiari type I malformation Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Abnormality of digit Large for gestational age Nephroblastoma Reduced bone mineral density Syndactyly Ventricular septal defect Right aortic arch Hematuria Hemiplegia Drooling Cerebral palsy Leukoencephalopathy Exotropia Tetraparesis Muscle cramps Renal cyst Hemolytic anemia Dysphasia Abnormal pyramidal sign Cerebellar hypoplasia Babinski sign Dystonia Hypertonia Cerebellar atrophy Anemia Cataract Intracranial hemorrhage Opisthotonus Downslanted palpebral fissures Schizencephaly Intrauterine growth retardation Wide nasal bridge Low-set ears Micrognathia Scoliosis Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Pontocerebellar atrophy Visual field defect Primitive reflex Porencephalic cyst Nuclear cataract Facial paralysis Hypoplasia of the iris Posterior embryotoxon Restlessness Limb dystonia Skin erosion Perisylvian polymicrogyria Respiratory insufficiency Abnormal hypothalamus morphology Prominent forehead Intellectual disability, severe Abnormality of coagulation Abnormality of the coagulation cascade Dandy-Walker malformation Myopathy Abnormality of the frontal bone Abnormality of the nasal bone Intracranial cystic lesion Spontaneous abortion Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Irritability Communicating hydrocephalus Pituitary hypothyroidism Buphthalmos Talipes equinovarus Hypertension Flexion contracture Ptosis Cryptorchidism Short stature Arachnoid hemangiomatosis Choroidal hemangioma Abnormality of the vasculature Aqueductal stenosis Congenital glaucoma Cafe-au-lait spot Abnormality of the cerebral white matter EEG abnormality Microcephaly Intraventricular hemorrhage Hydranencephaly Dilated fourth ventricle Central diabetes insipidus Excessive daytime somnolence Subcutaneous hemorrhage Wide mouth Fatigue Abnormality of nervous system morphology Foot polydactyly Hypermelanotic macule Aplasia/Hypoplasia of the cerebellum Hand polydactyly Full cheeks Facial asymmetry Blue nevus Obesity Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Capillary malformation Short lower limbs Recurrent infections Hypogonadism Prolactin excess Increased body weight Papilledema Proportionate short stature Hypopituitarism Polyphagia Diabetes insipidus Increased susceptibility to fractures Increased intracranial pressure Hypogonadotrophic hypogonadism Myocardial infarction Hypoglycemia Type II diabetes mellitus Amenorrhea Sleep disturbance Nausea Confusion Delayed puberty Nausea and vomiting Lethargy Anxiety Amyloid deposition in the vitreous humor



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