High palate, and Ischemic stroke

Diseases related with High palate and Ischemic stroke

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

Top matches:

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Other less relevant matches:

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

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

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Top 5 symptoms//phenotypes associated to High palate and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Arachnodactyly

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Seizures Mitral valve prolapse Pectus carinatum Bruising susceptibility Ptosis Inguinal hernia Aortic aneurysm Glaucoma Hypertelorism Osteoporosis Flexion contracture Myopia Renal insufficiency Kyphosis Peripheral arterial stenosis Aortic dissection Transient ischemic attack Subarachnoid hemorrhage Dilatation of the cerebral artery Cutis marmorata High, narrow palate Aortic regurgitation Edema Disproportionate tall stature

Rare Symptoms - Less than 30% cases

Long philtrum Redundant skin Intracranial hemorrhage Tricuspid regurgitation Hernia Renovascular hypertension Hemiplegia/hemiparesis Headache Myopathy Downslanted palpebral fissures Excessive wrinkled skin Telangiectasia of the skin Acidosis Muscular hypotonia Generalized hypotonia Arterial stenosis Muscle weakness Lactic acidosis Macrocephaly Thin skin Umbilical hernia Retinal detachment Epicanthus Cryptorchidism Pain Short stature Joint hypermobility Abnormal bleeding Kyphoscoliosis Failure to thrive Pulmonary embolism Ectopia lentis Dental crowding Behavioral abnormality Joint laxity Colonic diverticula Bladder diverticulum Keratoconus Short chin Telangiectasia Cutis laxa Ventricular hypertrophy Hypotension Vertigo Delayed puberty Pallor Hyperextensible skin Micrognathia Atherosclerosis Abdominal aortic aneurysm Abnormality of skin pigmentation Joint hyperflexibility Scarring Abnormality of cardiovascular system morphology Blindness Abnormality of connective tissue Thoracic aortic aneurysm Abnormality of the skin Pneumothorax Hemoptysis Aortic root aneurysm Abnormality of the sternum Coronary artery atherosclerosis Tall stature Pes planus Gastrointestinal hemorrhage Talipes equinovarus Mitral regurgitation Subcutaneous nodule Blue sclerae Myocardial infarction Strabismus Premature loss of teeth Abnormally large globe Periodontitis Gingivitis Narrow nose Abnormal eyelash morphology Alopecia of scalp Low hanging columella Sprengel anomaly Esophageal atresia Hyperphosphatemia Pes cavus Prematurely aged appearance Scleroderma Abnormal joint morphology Hyperhidrosis Fragile skin Hematochezia Osteolytic defects of the phalanges of the hand Varicose veins Abnormal oral frenulum morphology Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Thoracic kyphosis Internal hemorrhage Elevated serum creatine phosphokinase Abnormality of the gingiva Gastrointestinal infarctions Reduced consciousness/confusion Dermal translucency Ascending tubular aorta aneurysm Abnormality of hair texture Ocular pain Premature loss of primary teeth Periorbital edema Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Breech presentation Narrow nasal bridge Abnormal heart valve morphology Deeply set eye Flat face Diaphragmatic eventration Thin vermilion border Carious teeth Hip dislocation Protruding ear Telecanthus Arthritis Proptosis Migraine Narrow mouth Alopecia Hypospadias Congenital ptosis Hyperlordosis Long upper lip Abnormality of the dentition Sinus tachycardia Premature birth Microdontia Normal pressure hydrocephalus Tinnitus Macule Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Rheumatoid arthritis Rigidity Severe lactic acidosis Hypokalemia Abnormality of the urinary system Sleep apnea Osteoarthritis Abnormal intestine morphology Osteolysis Proximal muscle weakness Joint dislocation Congenital hip dislocation Respiratory arrest Cardiac arrest Gingival overgrowth Abnormality of the face Peripheral arteriovenous fistula Gingival recession Pulmonary artery aneurysm Hepatic cysts Short nose Tachycardia Anemia Fever Microcephaly Cerebral berry aneurysm Tricuspid valve prolapse Chronic pain Pancreatic cysts Encephalopathy Congenital hepatic fibrosis Cholangitis Enlarged kidney Hypertonia Metabolic acidosis Muscle cramps Hydrocephalus Webbed neck Decreased fetal movement Abnormality of metabolism/homeostasis Myoclonus Malar flattening Mitochondrial myopathy Generalized limb muscle atrophy Erythroid hyperplasia Cytochrome C oxidase-negative muscle fibers Hypochromic anemia Sideroblastic anemia Distichiasis Stroke-like episode Muscular dystrophy Arthrogryposis multiplex congenita Limb muscle weakness Increased serum ferritin Microcytic anemia Ragged-red muscle fibers Exercise intolerance EMG abnormality Progressive muscle weakness Increased serum lactate Abnormal facial shape Low-set ears Lumbar hyperlordosis Lymphedema Chronic lactic acidosis Hypoplastic lacrimal duct Acute kidney injury Scaphocephaly Myoglobinuria Syndactyly Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Arrhythmia Abnormality of the kidney Myalgia Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Malignant hyperthermia Polydactyly Stage 5 chronic kidney disease Cerebral hemorrhage Hepatic fibrosis Portal hypertension Cholelithiasis Shock Tachypnea Midface retrusion Ventricular arrhythmia Polycystic kidney dysplasia Chronic kidney disease Deep philtrum Hematuria Myotonia Ventricular fibrillation Nephrolithiasis Abnormality of the coagulation cascade Recurrent urinary tract infections Myopathic facies Hyperkalemia Renal cyst Rhabdomyolysis Arteriovenous fistulas of celiac and mesenteric vessels Psychosis Respiratory insufficiency Arteriosclerosis Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Pulmonary edema Accelerated atherosclerosis Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Abnormality of the cerebral vasculature Mitral stenosis Drusen Civatte bodies Vascular calcification Abnormality of the mouth Medial calcification of medium-sized arteries Blepharophimosis Osteopenia Macrotia Respiratory failure Vomiting Respiratory distress Fatigue Medial calcification of small arteries Abnormal atrioventricular valve morphology Premature occlusive vascular stenosis Subcutaneous calcification Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Thickened nuchal skin fold Severe intrauterine growth retardation Long face Prenatal maternal abnormality Visual impairment Growth delay Cystic medial necrosis of the aorta Paroxysmal dyspnea Descending aortic dissection Abnormality iris morphology Descending thoracic aorta aneurysm Carotid artery dilatation Ascending aortic dissection Cardiomyopathy Dural ectasia Hypovolemia Left ventricular failure Exertional dyspnea Bicuspid aortic valve Cardiomegaly Chest pain Retrognathia Patent ductus arteriosus Intrauterine growth retardation Congestive heart failure Severe vision loss Abnormality of the cardiovascular system Striae distensae Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Hypermelanotic macule Acne Abnormality of the thorax Macular degeneration Nephrocalcinosis Cerebral calcification Visual loss Sudden cardiac death Postural instability Pruritus Papule Small for gestational age Skin rash Retinopathy Hypothyroidism Reduced visual acuity Pulmonic stenosis Convex nasal ridge Cognitive impairment Anorexia Subcutaneous hemorrhage Arterial thrombosis Cerebral ischemia Esophageal varix Arteriovenous malformation Urticaria Venous thrombosis Abnormality of retinal pigmentation Amblyopia Abnormality of the skeletal system Sparse scalp hair Recurrent fractures Genu valgum Joint stiffness Elevated hepatic transaminase Optic atrophy Hepatomegaly Cataract Aortic tortuosity Abnormality of amino acid metabolism Depressivity Telangiectases of the cheeks Precocious atherosclerosis Global developmental delay Paroxysmal atrial fibrillation Left ventricular hypertrophy Atrial fibrillation Hypermethioninemia Personality disorder Biconcave vertebral bodies Homocystinuria Cerebral edema Generalized osteoporosis Aggressive behavior Thromboembolism Obsessive-compulsive behavior Brittle hair Schizophrenia Pancreatitis Aspiration Limitation of joint mobility Hypopigmentation of the skin Hepatic steatosis Abnormality of hair density Internal ophthalmoplegia Progressive visual loss Heart murmur Pulmonary artery stenosis Growth hormone excess Tracheomalacia Atrophic scars Blurred vision Impotence Epiphora Hyperglycemia Hyperinsulinemia Hiatus hernia Easy fatigability Hypogonadotrophic hypogonadism Recurrent pneumonia Increased body weight Aortic valve stenosis Gynecomastia Diplopia Congenital diaphragmatic hernia Amenorrhea Soft skin Male hypogonadism Curved fingers Sudden loss of visual acuity Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Cranial nerve VI palsy Decreased fertility in males Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Decreased circulating ACTH level Pituitary hypothyroidism Decreased female libido Arterial tortuosity Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Adrenocorticotropic hormone deficiency Mixed respiratory and metabolic acidosis


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