High palate, and Abnormal bleeding

Diseases related with High palate and Abnormal bleeding

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

Top matches:

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

Other less relevant 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

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

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Abnormal bleeding

Symptoms // Phenotype % cases
Bruising susceptibility Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Pes planus Uncommon - Between 30% and 50% cases
Arachnodactyly Uncommon - Between 30% and 50% cases
Blue sclerae Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Mitral valve prolapse Downslanted palpebral fissures Pain High, narrow palate Hypertension Failure to thrive Global developmental delay Short stature Myalgia Inguinal hernia Dilatation Hypertelorism Proptosis Aortic aneurysm Growth delay Visual loss Hyperextensible skin Myopia

Rare Symptoms - Less than 30% cases

Dural ectasia Hydrocephalus Tall stature Frontal bossing Cutis laxa Abnormal facial shape Pectus excavatum Dilatation of the cerebral artery Subarachnoid hemorrhage Macrocephaly Recurrent fractures Abnormality of the metaphysis Craniosynostosis Edema Aortic root aneurysm Increased susceptibility to fractures Joint hyperflexibility Intrauterine growth retardation Abdominal aortic aneurysm Brachydactyly Aortic regurgitation Midface retrusion Abnormality of the sternum High myopia Osteopenia Joint hypermobility Skeletal dysplasia Talipes equinovarus Renal insufficiency Hernia Camptodactyly Myopathy Joint laxity Delayed eruption of teeth Stroke Cerebral hemorrhage Kyphosis Mitral regurgitation Retrognathia Moderately short stature Cigarette-paper scars Absent palmar crease Prominent forehead Oligohydramnios Gastroesophageal reflux Premature birth Prominent nasal bridge Hypercholesterolemia Arthrogryposis multiplex congenita Metaphyseal widening Thenar muscle atrophy Malnutrition Flexion contracture Intractable diarrhea Enterocolitis Postnatal growth retardation Camptodactyly of finger Protein-losing enteropathy Platyspondyly Villous atrophy Tapered finger Hypodontia Bifid uvula Dental malocclusion Flattened epiphysis Short metacarpal Waddling gait Thin skin Short phalanx of finger Joint contracture of the hand Short femoral neck Irregular vertebral endplates Prominent superficial veins Broad femoral neck Hyponatremia Hypoalbuminemia Flat capital femoral epiphysis Increased body weight Muscular hypotonia Relative macrocephaly Retinal detachment Crumpled long bones Orbital craniosynostosis Hearing impairment Sensorineural hearing impairment Cleft palate Gait disturbance Abnormality of the dentition Osteoporosis Glaucoma Umbilical hernia Conductive hearing impairment Neonatal hypotonia Hip dislocation Pulmonic stenosis Microcornea Severe hydrops fetalis Sclerocornea Decreased corneal thickness Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Soft skin Hip dysplasia Megalocornea Keratoconus Hallux valgus Corneal dystrophy Congenital hip dislocation Abnormality of epiphysis morphology Multiple suture craniosynostosis Vertebral compression fractures Lipodystrophy Low-set ears Ectopia lentis Reduced subcutaneous adipose tissue Scaphocephaly Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Narrow palm Prominent scalp veins Generalized hypotonia Micrognathia Hyperlipidemia Severe short stature Communicating hydrocephalus High pitched voice Coronal craniosynostosis Shallow orbits Turricephaly Central hypotonia Hyperthyroidism Pathologic fracture Abnormality of the voice Microdontia Abnormality of dental enamel Wormian bones Hydrops fetalis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the ribs Abnormal intestine morphology Arthralgia Sepsis Delayed speech and language development Enlarged kidney Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hepatic cysts Chronic pain Tricuspid valve prolapse Colonic diverticula Cerebral berry aneurysm Intellectual disability Seizures Ataxia Anemia Fatigue Tricuspid regurgitation Splenomegaly Encephalopathy Rod-cone dystrophy Jaundice Hepatosplenomegaly Mental deterioration Paralysis Muscular dystrophy Retinal dystrophy Hemolytic anemia Muscle cramps Migraine Tetraparesis Disproportionate tall stature Portal hypertension Hyperbilirubinemia Premature occlusive vascular stenosis Visual impairment Reduced visual acuity Skin rash Gastrointestinal hemorrhage Macular degeneration Angina pectoris Arteriosclerosis Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Calcification of falx cerebri Peau d'orange Medial calcification of large arteries Medial calcification of medium-sized arteries Cholelithiasis Yellow papule Syndactyly Headache Polydactyly Abnormality of the kidney Stage 5 chronic kidney disease Hematuria Renal cyst Recurrent urinary tract infections Nephrolithiasis Hepatic fibrosis Chronic kidney disease Polycystic kidney dysplasia Exercise intolerance Purpura Metabolic acidosis Scarring Descending thoracic aorta aneurysm Abnormality iris morphology Descending aortic dissection Paroxysmal dyspnea Cystic medial necrosis of the aorta Muscle weakness Motor delay Long philtrum Cerebral atrophy Brachycephaly Narrow mouth Telecanthus Protruding ear Talipes Abnormality of connective tissue Generalized muscle weakness Dental crowding Joint dislocation Delayed gross motor development Adducted thumb Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Vomiting Diarrhea Acidosis Carotid artery dilatation Prenatal maternal abnormality Spastic tetraparesis Patent ductus arteriosus Hemiplegia Emotional lability Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Chest pain Ascending aortic dissection Cardiomegaly Bicuspid aortic valve Ischemic stroke Cutis marmorata Coronary artery atherosclerosis Exertional dyspnea Hemoptysis Transient ischemic attack Aortic dissection Peripheral arterial stenosis Left ventricular failure Pneumothorax Thoracic aortic aneurysm Hypovolemia Abnormality of hair pigmentation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Craniosynostosis, related diseases and genetic alterations Neuroblastoma and Anorexia, related diseases and genetic alterations Delayed speech and language development and Large fontanelles, related diseases and genetic alterations