High palate, and Atherosclerosis

Diseases related with High palate and Atherosclerosis

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

Top matches:

AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • Scoliosis
  • High palate
  • Myopia
  • Dilatation
  • Hernia


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Other less relevant matches:

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

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

Medium match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Medium match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

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

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

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Stroke Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pectus carinatum High, narrow palate Mitral valve prolapse Myopia Intellectual disability Coronary artery atherosclerosis Inguinal hernia Edema Osteoporosis Visual loss Angina pectoris Failure to thrive Abnormality of the skeletal system Behavioral abnormality Proptosis Abnormality of the dentition Myocardial infarction Cutis marmorata Abnormality of skin pigmentation Abnormality of the skin Abnormality of the cardiovascular system Generalized hypotonia Hearing impairment Micrognathia Wide nasal bridge Full cheeks Short stature Peripheral arterial stenosis Global developmental delay Pectus excavatum Hypertelorism Thoracic aortic aneurysm Hernia Arachnodactyly Aortic aneurysm Dental crowding Mitral regurgitation Abnormality of the sternum

Rare Symptoms - Less than 30% cases

Hypermelanotic macule Delayed cranial suture closure Long eyelashes Abnormal mitral valve morphology Pulmonary edema Postnatal growth retardation Coarse facial features Redundant skin Tall stature Cerebral calcification Striae distensae Retinopathy Scarring Congestive heart failure Cardiomyopathy Intrauterine growth retardation Flexion contracture Biconcave vertebral bodies Generalized osteoporosis Aortic root aneurysm Disproportionate tall stature Prominent forehead Aortic regurgitation Left ventricular hypertrophy Opacification of the corneal stroma Gingival overgrowth Narrow forehead Abnormal facial shape Depressed nasal bridge Frontal bossing Conductive hearing impairment Elevated hepatic transaminase Hepatosplenomegaly Cerebral atrophy Limitation of joint mobility Long philtrum Short nose Anteverted nares Downslanted palpebral fissures Bicuspid aortic valve Hepatomegaly Epicanthus Cataract Muscular hypotonia Microcephaly Arrhythmia Joint stiffness Cutis laxa Thick upper lip vermilion Angioid streaks of the fundus Aortic dissection Retrognathia Medial calcification of medium-sized arteries Hypoplasia of teeth Arthropathy Short clavicles Medial calcification of large arteries Abnormality of connective tissue Peau d'orange Calcification of falx cerebri Visual impairment Transient ischemic attack Kyphosis Bruising susceptibility Reduced visual acuity Skin rash Gastrointestinal hemorrhage Intermittent claudication Retinal hemorrhage Blue sclerae Arteriosclerosis Macular degeneration Seizures Premature occlusive vascular stenosis Kyphoscoliosis Dural ectasia Cardiomegaly Glaucoma Ischemic stroke Abdominal aortic aneurysm Depressivity Osteolytic defects of the phalanges of the hand Vertebral compression fractures Calcinosis Macroglossia Encephalocele Decreased body weight Chronic diarrhea Reduced subcutaneous adipose tissue Thickened skin Progeroid facial appearance Delayed eruption of teeth Exotropia Abnormal vertebral morphology Elbow flexion contracture Sleep disturbance Prominent superficial veins Neurodegeneration Everted lower lip vermilion Thick vermilion border Abnormality of epiphysis morphology Down-sloping shoulders Broad nasal tip Prematurely aged appearance Intellectual disability, profound Interphalangeal joint contracture of finger Lumbar hyperlordosis Progressive neurologic deterioration Spinal rigidity Abnormality of the ribs Glucose intolerance Microdontia Progressive visual loss Hypertrichosis High pitched voice Recurrent otitis media Hip dysplasia Atrial fibrillation Premature loss of teeth Insulin-resistant diabetes mellitus Asthma Split hand Focal segmental glomerulosclerosis Abnormal form of the vertebral bodies Narrow nose Inability to walk Loss of subcutaneous adipose tissue in limbs Wide nose Stiff elbow Vomiting Hydrocephalus Respiratory insufficiency Short neck Macrocephaly Skeletal muscle atrophy Narrow nasal ridge Delayed speech and language development Feeding difficulties Cognitive impairment Generalized lipodystrophy Sensorineural hearing impairment Wide cranial sutures Foamy urine Diarrhea Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Breast aplasia Limb-girdle muscle atrophy Bird-like facies Hematemesis Broad distal phalanx of finger Splenomegaly Hirsutism Craniosynostosis Thick eyebrow Retinal degeneration Dry skin Genu valgum Abnormality of eye movement Synophrys Mottled pigmentation Dolichocephaly Severe global developmental delay Corneal opacity Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Wide mouth Generalized hirsutism Pallor Mental deterioration Apnea Umbilical hernia Skeletal dysplasia Osteopenia Dyspnea Abdominal pain Pes cavus Recurrent respiratory infections Pneumonia Constipation Headache Carious teeth Protruding tongue Coxa valga J-shaped sella turcica Urinary glycosaminoglycan excretion Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Delayed ossification of the hand bones Abnormal hand morphology Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva Prominent sternum Cervical kyphosis Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Chronic rhinitis Retinal fold Short mandibular rami Abnormal CNS myelination Abnormal diaphysis morphology Abnormality of lysosomal metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Abnormality of glycosaminoglycan metabolism Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Mandibular condyle hypoplasia Lumbar kyphosis Cervical subluxation Hypoplastic cervical vertebrae Abnormality of the tympanic membrane Enlarged tonsils Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology C1-C2 subluxation Abnormality of the tonsils Hypoplasia of the femoral head Abnormality of the pubic bone Abnormal mandibular ramus morphology Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Recurrent ear infections Diaphyseal thickening Spastic paraparesis Stridor Palpebral edema Hypoplasia of the odontoid process Thoracic scoliosis Rhinitis Spinal canal stenosis Thickened calvaria Abnormal heart valve morphology Restrictive ventilatory defect Flared metaphysis Multiple joint contractures Metatarsus adductus Toe walking Heart murmur Language impairment Ventricular hypertrophy Hemiplegia Back pain Prominent supraorbital ridges Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Sleep apnea Corneal dystrophy Progressive hearing impairment Widely spaced teeth Cerebral palsy Coxa vara Abnormality of dental enamel Protuberant abdomen Hyperglycemia Delayed ossification of carpal bones Hypoplastic ilia Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Myelopathy Sagittal craniosynostosis Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Foam cells Flared iliac wings Cor pulmonale Conical tooth Upper airway obstruction Peripheral visual field loss Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Abnormality of the skull Obstructive sleep apnea Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Hyperostosis Ventricular extrasystoles Absent eyebrow Redundant neck skin Vascular calcification Accelerated atherosclerosis Civatte bodies Renovascular hypertension Metamorphopsia Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Arterial stenosis Abnormal thrombocyte morphology Restrictive cardiomyopathy Arterial calcification Lack of skin elasticity Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Subcutaneous calcification Hyperkeratotic papule Tricuspid regurgitation Talipes Horseshoe kidney Cholestasis Hypoplasia of penis Sloping forehead Postaxial hand polydactyly Specific learning disability Microcornea Downturned corners of mouth Postaxial polydactyly Bulbous nose Hepatic failure Thin vermilion border Toe syndactyly Localized skin lesion Abnormality of the liver Polydactyly Myoclonus Thrombocytopenia Syndactyly Talipes equinovarus Ptosis Medial calcification of small arteries Abnormal atrioventricular valve morphology Erythematous papule Subretinal fluid Peripapillary chorioretinal atrophy Generalized arterial calcification Hemiplegia/hemiparesis Acne Arnold-Chiari malformation Left ventricular failure Yellow papule Cerebral hemorrhage Cystic medial necrosis of the aorta Paroxysmal dyspnea Descending aortic dissection Abnormality iris morphology Descending thoracic aorta aneurysm Carotid artery dilatation Prenatal maternal abnormality Ascending aortic dissection Hypovolemia Pneumothorax Subarachnoid hemorrhage Hepatic steatosis Dilatation of the cerebral artery Hemoptysis Exertional dyspnea Chest pain Pes planus Patent ductus arteriosus Cystic medial necrosis Aortic arch aneurysm Arterial tortuosity Ascending tubular aorta aneurysm Emphysema Joint hypermobility Aggressive behavior Retinal detachment Abnormality of the thorax Renal insufficiency Intracranial hemorrhage Hyperextensible skin Nephrocalcinosis Subcutaneous nodule Sudden cardiac death Postural instability Joint hyperflexibility Pruritus Papule Small for gestational age Hypothyroidism Abnormality of cardiovascular system morphology Blindness Hypopigmentation of the skin Hypermethioninemia Personality disorder Homocystinuria Cerebral edema Precocious atherosclerosis Pulmonary embolism Thromboembolism Obsessive-compulsive behavior Ectopia lentis Brittle hair Schizophrenia Pancreatitis Aspiration Hyperbilirubinemia Elevated alkaline phosphatase Congenital muscular dystrophy Abnormality of the forehead Narrow mouth Hyperkeratosis Diabetes mellitus Alopecia Hypospadias Myopathy Pain Muscle weakness Neoplasm Facial wrinkling Enlarged naris Minimal subcutaneous fat Abnormal head movements Proximal muscle weakness Cardiogenic shock Abnormality of the nares Capillary malformation Premature coronary artery atherosclerosis Everted upper lip vermilion Acetabular dysplasia Unilateral cryptorchidism Torsade de pointes Supraventricular tachycardia Shuffling gait Excessive daytime somnolence Short columella Rigidity Abnormality of the kidney Poor eye contact Thin skin Glomerulosclerosis Hyperinsulinemia Lipodystrophy Dermal atrophy Hyperlipidemia Acanthosis nigricans Osteolysis Wormian bones Increased body weight Hyperpigmentation of the skin Insulin resistance Large fontanelles Sparse scalp hair Paralysis Hypertriglyceridemia Epidermal acanthosis Nephrotic syndrome Convex nasal ridge Dental malocclusion Round face Sepsis Short distal phalanx of finger Delayed puberty Hypotrichosis Nail dystrophy Muscular dystrophy Sparse hair Pulmonary artery stenosis Aplasia/Hypoplasia of the eyebrow Portal hypertension Cerebellar cortical atrophy Ventriculomegaly Ventricular septal defect Low-set ears Cryptorchidism Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Anisopoikilocytosis Hypertonia Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Acanthocytosis Intrahepatic cholestasis Myelomeningocele Meningocele Postaxial foot polydactyly Prominent metopic ridge Biparietal narrowing Pathologic fracture Bilateral talipes equinovarus Atrial septal defect Recurrent infections Broad hallux Waddling gait Deep philtrum Coarse hair Delayed gross motor development Scrotal hypoplasia Shock Ventricular tachycardia Torticollis Microretrognathia Low anterior hairline Sparse and thin eyebrow Stereotypy Fine hair Underdeveloped nasal alae Midface retrusion Highly arched eyebrow Small hand Tachycardia Abnormality of the foot Lethargy Autistic behavior Muscular hypotonia of the trunk Neonatal hypotonia Deeply set eye Thin upper lip vermilion Macrotia Delayed skeletal maturation Encephalopathy Paroxysmal atrial fibrillation


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