High palate, and Migraine

Diseases related with High palate and Migraine

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

Top matches:

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

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY

ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Other less relevant matches:

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

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

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

Symptoms // Phenotype % cases
Headache Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Umbilical hernia Vomiting High, narrow palate Atrial septal defect Short stature Inguinal hernia Joint laxity Bruising susceptibility Dental malocclusion Hypertelorism Ptosis Hypertension Microcephaly Abnormality of cardiovascular system morphology Dilatation of the cerebral artery Strabismus Epicanthus Constipation Hernia Short chin Cryptorchidism Abnormality of the dentition Arachnodactyly Pulmonic stenosis Subarachnoid hemorrhage Mitral valve prolapse Ventricular hypertrophy Aortic regurgitation Gastroesophageal reflux Scoliosis Pectus excavatum Intellectual disability, mild Deeply set eye Aortic aneurysm Patent ductus arteriosus Macrocephaly Aggressive behavior Micrognathia Abnormal heart morphology Growth delay Anxiety Hyperactivity Postnatal growth retardation Delayed speech and language development Coarctation of aorta Wide nasal bridge Brachydactyly

Rare Symptoms - Less than 30% cases

Arthritis Hyperreflexia Motor delay Long philtrum Thin vermilion border Vertigo Joint hyperflexibility Protruding ear Telecanthus Triangular face Posteriorly rotated ears Low posterior hairline Kyphoscoliosis Proptosis Cataract Stroke Abnormal bleeding Clinodactyly of the 5th finger Hypospadias Polycystic kidney dysplasia Sprengel anomaly Intrauterine growth retardation Abnormal facial shape Curved fingers Scleroderma Generalized hypotonia Bladder diverticulum Neoplasm Irritability Renal cyst Osteopenia Hearing impairment Autism Behavioral abnormality Clinodactyly Colonic diverticula Muscular hypotonia Feeding difficulties Telangiectasia Gait disturbance Low-set ears Ventricular septal defect Keratoconus Short neck Microdontia Thin skin Nephrolithiasis Talipes equinovarus Osteoarthritis Hypermetropia Disproportionate tall stature Renal insufficiency Facial asymmetry Bicuspid aortic valve Left ventricular hypertrophy Mitral regurgitation Lymphedema Soft skin Pes planus Osteoporosis Abnormality of the skeletal system Downslanted palpebral fissures Rod-cone dystrophy Amenorrhea Bulbous nose Splenomegaly Abnormal joint morphology Anemia Flexion contracture Long eyelashes Uterine prolapse Intellectual disability, moderate Hydronephrosis Macrotia Arterial tortuosity Aortic dissection Fatigue Abdominal aortic aneurysm Respiratory failure Fulminant hepatic failure Hair-pulling Recurrent pyelonephritis Long face Respiratory distress Aortic tortuosity Delayed puberty Pectus carinatum Scarring Blepharophimosis Blindness Pallor Tongue thrusting Dysarthria Heat intolerance Hyperorality Mandibular prognathia Arachnoid cyst Craniosynostosis Wide mouth Joint stiffness Feeding difficulties in infancy Conductive hearing impairment Thin upper lip vermilion Bruxism Hypothyroidism Cerebellar cortical atrophy Upslanted palpebral fissure Babinski sign Telangiectases of the cheeks Concave nasal ridge Delayed skeletal maturation Delayed CNS myelination Periorbital fullness Episodic vomiting Toenail dysplasia Abnormality of hair density Female hypogonadism Internal ophthalmoplegia Epiphora Tracheomalacia Aortic root aneurysm Atrophic scars Congenital diaphragmatic hernia Diplopia Blurred vision Gynecomastia Aortic valve stenosis Impotence Increased body weight Pulmonary artery stenosis Recurrent pneumonia Hyperglycemia Heart murmur Hypogonadotrophic hypogonadism Cutis laxa Hyperinsulinemia Camptodactyly of finger Easy fatigability Ischemic stroke Growth hormone excess Hiatus hernia Hypotension Sudden loss of visual acuity Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Cranial nerve VI palsy Decreased fertility in males Convex nasal ridge Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Progressive visual loss Male hypogonadism Decreased circulating ACTH level Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Hyperextensible skin Celiac disease Short philtrum Primary amenorrhea Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Azoospermia Plagiocephaly Amblyopia Clumsiness Wide intermamillary distance Abnormality of color vision Hypertrophic cardiomyopathy Edema Congestive heart failure Thrombocytopenia Hypogonadism Abdominal pain Polyhydramnios Low-set, posteriorly rotated ears Webbed neck Sparse hair Abnormal cardiac septum morphology Broad forehead Leukemia Hypotrichosis Abdominal distention Leukocytosis Neurofibromas Fever Optic disc hypoplasia Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Asymmetry of the thorax Cystic hygroma Malignant hyperthermia Male infertility Abnormality of the vertebral column Neuroblastoma Abnormality of blood and blood-forming tissues Gonadal dysgenesis Arnold-Chiari type I malformation Drusen Multiple lentigines Nonimmune hydrops fetalis Atrial flutter Restrictive cardiomyopathy Shield chest Synovitis Schwannoma Cardiomyopathy Myopia Prominent nasal bridge Short palpebral fissure Impulsivity Clubbing Language impairment Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the hand Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Broad thumb Recurrent otitis media Interphalangeal joint contracture of finger High pitched voice Downturned corners of mouth Neurological speech impairment Small for gestational age Malabsorption Poor speech Smooth philtrum Hirsutism Small hand Apraxia Hypoplasia of the maxilla Broad nasal tip Prominent nose Underdeveloped nasal alae Otitis media Hypoplasia of penis Preauricular pit Palpebral edema Depressed nasal bridge Short upper lip Sensorineural hearing impairment Nystagmus Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Spinal dysraphism Proportionate short stature Enuresis Short clavicles Lipoma Cone-shaped epiphyses of the phalanges of the hand Short columella Abnormality of the clavicle Short attention span Villous atrophy Stiff neck 11 pairs of ribs Enlarged joints Speech apraxia Hyperextensibility of the finger joints Broad columella Tethered cord Abnormality of the periventricular white matter Diarrhea Impaired pain sensation Melanocytic nevus Abnormal eyelash morphology Alopecia of scalp Premature loss of teeth Esophageal atresia Hemoptysis Prematurely aged appearance Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Macule Aplasia/Hypoplasia of the eyebrow Rheumatoid arthritis Transient ischemic attack Redundant skin Hypokalemia Abnormality of the urinary system Tinnitus Sleep apnea Abnormal intestine morphology Osteolysis Joint dislocation Congenital hip dislocation Cardiac arrest Gingival overgrowth Subcutaneous nodule Narrow nose Gingivitis Blue sclerae Abnormality of hair texture Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Internal hemorrhage Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Excessive wrinkled skin Ocular pain Periodontitis Arterial stenosis Premature loss of primary teeth Periorbital edema Pneumothorax Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Varicose veins Hematochezia Abnormally large globe Abnormality of the face Abnormality of the skin Normal pressure hydrocephalus Tetraparesis Myoglobinuria Progressive encephalopathy Reticulocytosis Acute kidney injury Rhabdomyolysis Aphasia Emotional lability Hemiplegia Spastic tetraparesis Purpura Hyperbilirubinemia Exercise intolerance Muscle cramps Increased muscle fatiguability Hemolytic anemia Retinal dystrophy Muscular dystrophy Paralysis Mental deterioration Myalgia Hepatosplenomegaly Jaundice Visual loss Encephalopathy Myopathy Ataxia Decreased mean corpuscular volume Recurrent myoglobinuria Premature birth Protrusio acetabuli Flat face Joint hypermobility Abnormality of skin pigmentation Carious teeth Hip dislocation Narrow mouth Glaucoma Alopecia Hydrocephalus Respiratory insufficiency Knee osteoarthritis Intervertebral disc degeneration Dural ectasia Exercise-induced muscle cramps Hip osteoarthritis Thoracic aortic aneurysm Osteochondritis Dissecans Low back pain Spondylolisthesis Striae distensae Slender finger Abnormality of the sternum Back pain Atrial fibrillation Camptodactyly Cleft palate Exercise-induced myoglobinuria Peripheral arteriovenous fistula Pulmonary artery aneurysm Poor eye contact Recurrent infections Unsteady gait Nausea and vomiting Dolichocephaly Autistic behavior Abnormality of the pinna Neonatal hypotonia EEG abnormality Agenesis of corpus callosum Hyporeflexia Obesity Absent speech Midface retrusion Immunodeficiency Thick eyebrow Malar flattening Ventriculomegaly Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Hepatic failure Thick vermilion border Generalized hypopigmentation Accelerated skeletal maturation Weak cry Cellulitis 2-3 toe syndactyly Hypoplastic toenails Large hands Prominent supraorbital ridges Recurrent upper respiratory tract infections Recurrent skin infections Poor head control Increased intracranial pressure Abnormality of the outer ear Sacral dimple Multicystic kidney dysplasia Sleep disturbance Pointed chin Cerebral visual impairment Hypohidrosis Dental crowding Tall stature Chronic diarrhea Renal dysplasia Abnormality of the genital system Broad-based gait Hepatitis Vesicoureteral reflux Full cheeks Abnormal posturing Fair hair Gingival recession Polydactyly Cholangitis Enlarged kidney Cerebral hemorrhage Tricuspid regurgitation Portal hypertension Cholelithiasis Chronic kidney disease Hepatic fibrosis Recurrent urinary tract infections Hematuria Stage 5 chronic kidney disease Abnormality of the kidney Syndactyly Pancreatic cysts Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Congenital hepatic fibrosis Hepatic cysts Blue irides Nausea Self-mutilation Poor coordination Iron deficiency anemia Hypoplastic left heart Malnutrition Obsessive-compulsive behavior Spontaneous abortion Psychosis Eczema Cerebral calcification Delayed myelination Asthma Dry skin Chronic pain Abnormality of the cerebral white matter Pruritus Attention deficit hyperactivity disorder Skin rash Abnormality of the liver Depressivity Hypertonia Hypoplasia of the corpus callosum Anteverted nares Tremor Spasticity Cerebral berry aneurysm Tricuspid valve prolapse Postductal coarctation of the aorta


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