High palate, and Stroke

Diseases related with High palate and Stroke

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

Top matches:

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

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

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

Other less relevant matches:

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

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

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

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

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

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

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to High palate and Stroke

Symptoms // Phenotype % cases
Dilatation Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pectus excavatum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pectus carinatum Mitral valve prolapse Hypertension Seizures Generalized hypotonia Hypertelorism Flexion contracture Aortic regurgitation Tall stature Aortic aneurysm Micrognathia Edema Downslanted palpebral fissures Inguinal hernia Retrognathia Bruising susceptibility Subarachnoid hemorrhage Malar flattening Kyphoscoliosis Ischemic stroke Cutis marmorata Abnormality of the sternum Aortic root aneurysm Peripheral arterial stenosis Disproportionate tall stature Myopia Glaucoma Long philtrum Kyphosis Muscle weakness Myopathy Dilatation of the cerebral artery Ptosis Pes planus Joint laxity Aortic dissection Thoracic aortic aneurysm Redundant skin High, narrow palate Renal insufficiency Mitral regurgitation

Rare Symptoms - Less than 30% cases

Delayed puberty Retinal detachment Long face Osteoporosis Abnormality of the skeletal system Lactic acidosis Acidosis Pallor Myocardial infarction Overgrowth Myoclonus Encephalopathy Heart murmur Epiphora Short nose Large for gestational age Macrocephaly Respiratory failure Apnea Thoracic kyphosis Dental crowding Visual loss Blindness Deep philtrum Hypotension Webbed neck Congestive heart failure Hyperlordosis Pes cavus Arrhythmia Abnormality of cardiovascular system morphology Scarring Hernia Abnormality of the cardiovascular system Abnormal facial shape Cutis laxa Hyperextensible skin Strabismus Homocystinuria Pulmonary edema Ectopia lentis Atherosclerosis Breech presentation Joint hypermobility Striae distensae Anemia Pain Cardiomegaly Abdominal aortic aneurysm Tricuspid valve prolapse Ventricular hypertrophy Coronary artery atherosclerosis Transient ischemic attack Pneumothorax Patent ductus arteriosus Dural ectasia Abnormality of connective tissue Muscular hypotonia Failure to thrive Microcephaly Headache Tricuspid regurgitation Chest pain Atrophic scars Growth hormone excess Pulmonic stenosis Blepharophimosis Umbilical hernia Osteopenia Macrotia Bladder diverticulum Tracheomalacia Vomiting Respiratory distress Adrenocorticotropic hormone deficiency Fatigue Atrial fibrillation Pulmonary artery stenosis Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Soft skin Vertigo Convex nasal ridge Blurred vision Increased body weight Impotence Male hypogonadism Hyperglycemia Hyperinsulinemia Easy fatigability Short chin Hypogonadotrophic hypogonadism Recurrent pneumonia Aortic valve stenosis Progressive visual loss Keratoconus Gynecomastia Diplopia Telangiectasia Pituitary hypothyroidism Thin skin Hiatus hernia Amenorrhea Congenital diaphragmatic hernia Spontaneous pneumothorax Incisional hernia Sleep apnea Decreased muscle mass Open bite Emphysema Left ventricular hypertrophy Rocker bottom foot Paroxysmal atrial fibrillation Hammertoe Congenital contracture Back pain Narrow palate Reduced subcutaneous adipose tissue Spontaneous abortion Elbow flexion contracture Narrow face Exotropia Amblyopia Decreased body weight Abnormal lung morphology Talipes equinovarus Esotropia Dental malocclusion Restrictive ventilatory defect Slender finger Increased axial length of the globe Protrusio acetabuli Anisometropia Overjet Rectal prolapse Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Hypopnea Premature osteoarthritis Endocarditis Megalocornea Overbite Ascending tubular aorta aneurysm Hypoplasia of the musculature Low back pain Spondylolisthesis Genu recurvatum Obstructive sleep apnea Meningocele Arachnoid cyst Hypoplasia of the iris Abnormal thrombosis Decreased circulating ACTH level Oculomotor nerve palsy Vesicoureteral reflux Large fontanelles Inflammatory abnormality of the skin Small nail Hypsarrhythmia Generalized-onset seizure Limb undergrowth Microdontia Neuronal loss in central nervous system Epileptic encephalopathy Delayed myelination Gingival overgrowth Gliosis Sepsis Generalized myoclonic seizures Hemolytic anemia Downturned corners of mouth Wide nose Short distal phalanx of finger Hepatic failure Cirrhosis Ichthyosis Postnatal microcephaly Cerebral visual impairment Wide mouth High anterior hairline Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Developmental stagnation Cardiorespiratory arrest Multicystic kidney dysplasia Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Overfolded helix Scaling skin Elevated alkaline phosphatase Widely spaced teeth Abnormality of eye movement Developmental regression Galactorrhea Cranial nerve VI palsy Global developmental delay Aortic tortuosity Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Decreased fertility in males Cleft palate Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Syndactyly Decreased female libido Arterial tortuosity Decreased fertility in females Secondary growth hormone deficiency Hearing impairment Spasticity Abnormality of the eye Cerebellar hypoplasia Muscular hypotonia of the trunk Neonatal hypotonia Coarse facial features Polyhydramnios Narrow mouth Micropenis Cerebral cortical atrophy Upslanted palpebral fissure Posteriorly rotated ears Pneumonia Depressed nasal bridge Obesity Absent speech Cerebral atrophy Cerebellar atrophy Atrial septal defect Hypoplasia of the corpus callosum Short neck Anteverted nares Hyperreflexia Hepatomegaly Polyneuropathy Polydactyly Peripheral axonal neuropathy Chronic pain Tachycardia Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Hepatic cysts Myalgia Proximal muscle weakness Rigidity Hyperhidrosis Elevated serum creatine phosphokinase Metabolic acidosis Midface retrusion Colonic diverticula Hypertonia Fever Epicanthus Cerebral berry aneurysm Low-set ears Cryptorchidism Short stature Pancreatic cysts Muscle cramps Personality disorder Abnormality of the coagulation cascade Low hanging columella Cerebral hemorrhage Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Hyperkalemia Myopathic facies Ventricular fibrillation Abnormal bleeding Myotonia Enlarged kidney Ventricular arrhythmia Tachypnea Shock Lymphedema Lumbar hyperlordosis Decreased fetal movement Cholangitis Congenital hepatic fibrosis Hypermethioninemia Biconcave vertebral bodies Severe lactic acidosis EMG abnormality Hypochromic anemia Sideroblastic anemia Distichiasis Stroke-like episode Mitochondrial myopathy Increased serum ferritin Microcytic anemia Ragged-red muscle fibers Exercise intolerance Progressive muscle weakness Erythroid hyperplasia Increased serum lactate Prenatal maternal abnormality Carotid artery dilatation Descending thoracic aorta aneurysm Abnormality iris morphology Descending aortic dissection Paroxysmal dyspnea Abnormality of metabolism/homeostasis Cystic medial necrosis of the aorta Cytochrome C oxidase-negative muscle fibers Generalized limb muscle atrophy Bicuspid aortic valve Pancreatitis Cerebral edema Precocious atherosclerosis Generalized osteoporosis Pulmonary embolism Thromboembolism Obsessive-compulsive behavior Brittle hair Schizophrenia Exertional dyspnea Aspiration Chronic lactic acidosis Hemoptysis Limitation of joint mobility Hypopigmentation of the skin Left ventricular failure Hepatic steatosis Aggressive behavior Hypovolemia Depressivity Behavioral abnormality Ascending aortic dissection Hyperphosphatemia Respiratory arrest Dolichocephaly Arteriosclerosis Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Arterial stenosis Civatte bodies Abnormality of the kidney 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 Renovascular hypertension Accelerated atherosclerosis Thickened nuchal skin fold Medial calcification of medium-sized arteries Camptodactyly Deeply set eye Gastroesophageal reflux Clinodactyly Respiratory insufficiency Peripheral neuropathy Cataract Medial calcification of small arteries Abnormal atrioventricular valve morphology Premature occlusive vascular stenosis Vascular 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 Subcutaneous calcification Drusen Abnormality of the mouth Diaphragmatic eventration Chronic kidney disease Joint hyperflexibility Pruritus Papule Small for gestational age Skin rash Retinopathy Hepatic fibrosis Hypothyroidism Reduced visual acuity Polycystic kidney dysplasia Postural instability Cholelithiasis Portal hypertension Cardiomyopathy Intrauterine growth retardation Visual impairment Growth delay Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Abnormality of skin pigmentation Sudden cardiac death Severe intrauterine growth retardation Abnormality of the thorax Severe vision loss Stage 5 chronic kidney disease Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Hypermelanotic macule Hemiplegia/hemiparesis Acne Intracranial hemorrhage Gastrointestinal hemorrhage Hematuria Renal cyst Recurrent urinary tract infections Macular degeneration Nephrocalcinosis Subcutaneous nodule Blue sclerae Nephrolithiasis Cerebral calcification Abnormality of the skin Abnormality of the pons


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