High palate, and Epistaxis

Diseases related with High palate and Epistaxis

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

Top matches:

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Other less relevant matches:

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

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

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

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

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Subarachnoid hemorrhage Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Mitral valve prolapse Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pain Cerebral hemorrhage Migraine Hematemesis Ischemic stroke Seizures Dilatation Visual loss Stroke Transient ischemic attack Bruising susceptibility Global developmental delay Aortic regurgitation Arachnodactyly High, narrow palate Scoliosis Talipes equinovarus

Rare Symptoms - Less than 30% cases

Tongue telangiectasia Nasal mucosa telangiectasia Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Spinal arteriovenous malformation Brain abscess Right-to-left shunt Mitral regurgitation Gastrointestinal angiodysplasia Nail bed telangiectasia Lip telangiectasia Pes planus Renal insufficiency Cerebral arteriovenous malformation Spontaneous, recurrent epistaxis Melena Blue sclerae Conjunctival telangiectasia Palate telangiectasia Gastrointestinal telangiectasia Hepatosplenomegaly Inguinal hernia Polydactyly Patent ductus arteriosus Syndactyly Diarrhea Vomiting Frontal bossing Fatigue Short stature Intellectual disability Hypertelorism Hemoptysis Gastrointestinal arteriovenous malformation Myalgia Myopathy Hematuria Nausea Abdominal aortic aneurysm Dilatation of the cerebral artery Encephalopathy Aortic aneurysm Headache Fingerpad telangiectases Portal hypertension Abnormality of the sternum Hematochezia Failure to thrive Polycythemia Talipes Metabolic acidosis Jaundice Acidosis Atrial septal defect Ventricular septal defect Hyperbilirubinemia Micrognathia Abnormality of the liver Cyanosis Clubbing Dyspnea Cirrhosis Telangiectasia Peau d'orange Hypercholesterolemia Cerebral berry aneurysm Ataxia Delayed speech and language development Brachydactyly Splenomegaly Rod-cone dystrophy Abnormal intestine morphology Mental deterioration Paralysis Intermittent claudication Tricuspid valve prolapse Muscular dystrophy Retinal dystrophy Hemolytic anemia Muscle cramps Tetraparesis Exercise intolerance Purpura Spastic tetraparesis Hyperlipidemia Hemiplegia Emotional lability Colonic diverticula Hepatic cysts Chronic pain Renal cyst Premature occlusive vascular stenosis Calcification of falx cerebri Medial calcification of medium-sized arteries Yellow papule Angioid streaks of the fundus Villous atrophy Malnutrition Joint laxity Abnormality of the kidney Hyponatremia Stage 5 chronic kidney disease Protein-losing enteropathy Enterocolitis Medial calcification of large arteries Recurrent urinary tract infections Nephrolithiasis Hepatic fibrosis Chronic kidney disease Polycystic kidney dysplasia Cholelithiasis Hypoalbuminemia Tricuspid regurgitation Sepsis Enlarged kidney Cholangitis Congenital hepatic fibrosis Pancreatic cysts Disproportionate tall stature Acute kidney injury Aphasia Descending thoracic aorta aneurysm Dental crowding Dural ectasia Retinal hemorrhage Generalized muscle weakness Prenatal maternal abnormality Abnormality of connective tissue Carotid artery dilatation Joint hypermobility Scarring Protruding ear Camptodactyly Telecanthus Arthralgia Narrow mouth Thoracic aortic aneurysm Brachycephaly Hernia Midface retrusion Cerebral atrophy Long philtrum Downslanted palpebral fissures Motor delay Abnormal facial shape Muscle weakness Cystic medial necrosis of the aorta Paroxysmal dyspnea Abnormality iris morphology Descending aortic dissection Hypovolemia Pneumothorax Hypoplasia of the musculature Adducted thumb Rhabdomyolysis Facial hypotonia Reticulocytosis Progressive encephalopathy Myoglobinuria Fragile skin Bilateral talipes equinovarus Decreased mean corpuscular volume Increased muscle fatiguability Patent foramen ovale Recurrent myoglobinuria Exercise-induced muscle cramps Hyperextensible skin Exercise-induced myoglobinuria Left ventricular failure Delayed gross motor development Joint dislocation Retrognathia Chest pain Cardiomegaly Tall stature Bicuspid aortic valve Cutis marmorata Coronary artery atherosclerosis Exertional dyspnea Aortic root aneurysm Aortic dissection Peripheral arterial stenosis Ascending aortic dissection Short humerus Arteriosclerosis Thrombocytosis Lichenification Generalized aminoaciduria Nephrogenic diabetes insipidus Giant cell hepatitis Talipes calcaneovalgus Pulmonary arterial hypertension Choriocapillaris atrophy Congestive heart failure Ascites Atherosclerosis Elevated alkaline phosphatase Pericardial effusion Scleroderma Abnormality of the vasculature Conjugated hyperbilirubinemia Esophageal varix Hypoxemia Migraine with aura Venous malformation Arteriovenous fistula Focal sensory seizure Polycystic liver disease Pulmonary hemorrhage Hemangiomatosis Coronary artery aneurysm Arteriovenous fistulas of celiac and mesenteric vessels High-output congestive heart failure Visual auras Venous varicosities of celiac and mesenteric vessels Cholestatic liver disease Barrel-shaped chest Dilatation of celiac artery Nephropathy Hearing impairment Microcephaly Sensorineural hearing impairment Muscular hypotonia Low-set ears Hypoplasia of the corpus callosum Hyperkeratosis Osteopenia Elevated hepatic transaminase Proteinuria Hip dislocation Pruritus Arthrogryposis multiplex congenita Ichthyosis Single transverse palmar crease Right ventricular hypertrophy Abnormal bleeding Hip dysplasia Dehydration Sloping forehead Ventricular hypertrophy Cholestasis Congenital hip dislocation Nephrocalcinosis Aminoaciduria Lissencephaly Diabetes insipidus Renal tubular acidosis Severe failure to thrive Renal tubular dysfunction Dilatation of mesenteric artery Cleft palate Angina pectoris Abnormality of the carpal bones Absent radius Thoracic scoliosis Short clavicles Heart block Truncus arteriosus Down-sloping shoulders Secundum atrial septal defect Allergy Ecchymosis Complete atrioventricular canal defect Anomalous pulmonary venous return Phocomelia Total anomalous pulmonary venous return Small thenar eminence Partial duplication of thumb phalanx Generalized hypotonia Aplasia of the ulna Short digit Mesoaxial polydactyly Aplasia of the pectoralis major muscle Tibial torsion Lactose intolerance Patellar subluxation Quadricuspid aortic valve Visual impairment Myopia Kyphosis Reduced visual acuity Skin rash Macular degeneration Oligodactyly Atrioventricular canal defect Depressed nasal bridge Bradycardia Abnormality of the skeletal system Respiratory distress Abnormality of cardiovascular system morphology Thrombocytopenia Pectus excavatum Clinodactyly Abnormal heart morphology Abnormal cardiac septum morphology Asthma Abnormality of the cardiovascular system Coarctation of aorta Atrial fibrillation Short thumb Abnormal vertebral morphology Aortic valve stenosis Absent thumb Horseshoe kidney Finger clinodactyly Eosinophilia Hypoplasia of the radius Atrioventricular block Triphalangeal thumb Bowing of the legs Hypoplasia of the ulna Menorrhagia Bundle branch block Right bundle branch block Hypoplastic left heart Petechiae Limited elbow extension Intractable diarrhea


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Hydronephrosis, related diseases and genetic alterations Macrocephaly and Lymphedema, related diseases and genetic alterations Hydrocephalus and Pancytopenia, related diseases and genetic alterations