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Symptoms » High arched palate » Glossary
 

Glossary for High arched palate

Medical terms related to High arched palate or mentioned in this section include:

  • 46,XY chromosome 7 deletion p13-p21: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
  • Anophthalmia -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis, distal, type 2E: A rare syndrome characterized by contractures of the fingers and jaw.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Ben-Ari-Shuper-Mimouni syndrome: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Birth defects: Conditions which are present at birth and are considered alterations to what is considered normal in a newborn baby
  • Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
  • Bone symptoms: Symptoms affecting the body's bones
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Branchio-skeleto-genital syndrome: A rare inherited disorder characterized by mental retardation, jaw anomalies, cleft palate, sunken chest and other abnormalities.
  • Breath symptoms: Breath-related symptoms including breath odor
  • Breathing symptoms: Symptoms affecting the breathing systems.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
  • Cerebro-oculo-nasal syndrome: A rare syndrome characterized mainly by eye, nose and brain malformations.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
  • Chromosome 19q13.11 Deletion syndrome: A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms.
  • Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
  • Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
  • Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Clavicle, pseudoarthrosis of, congenital: A rare congenital condition where the collarbone doesn't develop normally.
  • Cleft palate: This when there is a congenital fissure of the median line of the palate.
  • Cold-induced sweating syndrome 2: A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather.
  • Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Congenital heart disease -- radio ulnar synostosis -- mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Corpus callosum agenesis double urinary collecting: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Corpus callosum agenesis double urinary collecting system and trigonocephaly: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
  • Craniosynostosis -- intracranial calcifications: A rare syndrome characterized by the premature fusion of skull bones as well as abnormal calcifications inside the skull. The features of the disorder may vary.
  • Crumpled helices and small mouth: A very rare condition observed in two sibling and characterized by the association of a small mouth and crumpled ear helices.
  • Cutis Laxa with Bone Dystrophy: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with Growth and Developmental Delay: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with or without Congenital Disorder of Glycosylation: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa, Autosomal Recessive, Type IIA: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa, Debre Type: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
  • Cyclophosphamide -- Teratogenic Agent: There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Del (2) (q37.1-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases: A very rare syndrome characterized mainly by speech delay, crease in the ear lobe, asymmetrical face and cross-eyed.
  • Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • Dennis cohen syndrome: A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair.
  • Developmental problems: Physical or mental development difficulty.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
  • Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Double Upper and Lower Lip -- Hypertelorism -- Ptosis -- Blepharophimosis -- clinodactyly: A very rare syndrome characterized y double lip involving the upper and lower lip, wide set eyes, droopy eyelids, blepharophimosis and abnormally curved fifth fingers.
  • Dup (1) (q42-qter) & del (18p): A rare chromosomal disorder which manifests as various physical and mental abnormalities. Patients tend to die within the first couple of decades but the condition is poorly defined.
  • Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Dursun Syndrome: A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells).
  • Dysharmonic skeletal maturation -- muscular fiber disproportion: A very rare syndrome characterized mainly by abnormal bone development and muscle problems.
  • Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Emery-Nelson syndrome: A rare condition characterized by a flat face and hand and foot abnormalities.
  • Face symptoms: Symptoms affecting the face
  • Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
  • Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
  • Fetal ricin syndrome: A condition that occurs in infants born to mothers who consumed castor oil seeds (Ricinus communis) as a form of contraception.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
  • Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.
  • Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
  • Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
  • Harrod Doman Keele syndrome: A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities.
  • Head symptoms: Symptoms affecting the head or brain
  • Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
  • Hypoglossia with Situs Inversus: A very rare birth malformation involving an abnormally small tongue (large portion is missing) and situs inverses which is a medical term for organs which are located on the wrong side of the body - e.g. heart on the right side of the body and liver on the left side of the body.
  • Hypogonadism -- mitral valve prolapse -- mental retardation: A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation.
  • Hypotonic sclerotic muscular dystrophy: A very rare inherited disorder involving abnormalities of various body systems. It is a variation of Ullrich's disease. The contractures that develop progress rapidly.
  • Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
  • Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
  • Intellectual deficit -- multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • Intracranial aneurysms -- multiple congenital anomaly: A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities.
  • Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Kasznica-Carlson-Coppedge syndrome: A very rare syndrome characterized mainly by missing fingers or cleft hand, spina bifida and heart disease.
  • Keutel syndrome 2: A rare inherited syndrome characterized mainly meningocele, various skeletal abnormalities and retarded motor and mental development.
  • Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
  • Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
  • Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
  • Lateral meningocele syndrome: A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebral cortex.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Limb symptoms: Symptoms affecting the limbs
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
  • Lumbar malsegmentation -- short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
  • Lumbar malsegmentation, short stature and facial anomalies: A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies.
  • Madokoro-Ohdo-Sonoda syndrome: A rare disorder characterized by the absence of all four limbs, an unusual face and retarded development.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • Marfan's syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • Mastocytosis -- short stature -- hearing loss: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
  • Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
  • McDonough syndrome: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • Mehes syndrome: A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases.
  • Melhem-Fahl syndrome: A very rare syndrome characterized mainly by an abnormal number of ribs and vertebrae.
  • Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
  • Mental retardation -- hypotonic facies syndrome, X-linked, 1: A group of rare syndromes characterized by severe mental retardation, unusual facial appearance and other variable abnormalities.
  • Mental retardation -- myopathy -- short stature -- endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
  • Mental retardation -- short stature -- heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
  • Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
  • Mental retardation, X-linked syndromic 14: A syndromic form of mental retardation which also involves variable features including poorly muscled build and facial anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect is located on chromosome Xq25-q26.
  • Mental retardation, X-linked, 2: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect on chromosome Xp22.3. Mental retardation was mild to moderate.
  • Mental retardation, X-linked, 91: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the ZDHHC15 gene on chromosome Xq13.3.
  • Mental retardation, X-linked, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect occurs on chromosome Xq24.
  • Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
  • Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
  • Methimazole -- Teratogenic Agent: There is evidence to indicate that exposure to Methimazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Mickleson syndrome: A very rare syndrome characterized mainly by mental retardation and facial and skull anomalies.
  • Microcephaly -- deafness syndrome: A very rare syndrome characterized mainly by a small head and deafness.
  • Microcephaly -- glomerulonephritis -- Marfanoid habitus: A very rare syndrome characterized mainly by a small head, kidney disorder and a and a tall, slight build.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Microphthalmia syndromic, type 6: A rare inherited syndrome characterized mainly by small eyes, malformed ears, small jaw and finger and genital abnormalities. The symptoms are variable to some degree.
  • Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
  • Minicore myopathy, antenatal onset, with arthrogryposis: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable.
  • Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
  • Mouth symptoms: Symptoms of the mouth or oral area.
  • Muenke Syndrome: A rare inherited condition characterized by the premature fusion of particular skull bones.
  • Mullerian derivatives -- lymphangiectasia -- polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
  • Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
  • Multiple joint dislocations -- metaphyseal dysplasia: A rare disorder characterized by multiple joint dislocations and abnormal bone development as well as various other anomalies.
  • Muscular dystrophy -- white matter spongiosis: A very rare syndrome characterized mainly by muscle problems, seizures and mental retardation.
  • Muscular dystrophy, congenital, merosin-positive: A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures.
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
  • Myopathy congenital multicore with external ophthalmoplegia: A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable.
  • Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
  • Myopathy, Congenital, Compton-North: A familial form of congenital muscle disease resulting from a genetic anomaly.
  • Myopathy, congenital fiber-type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
  • Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
  • Nguyen syndrome: A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
  • Night blindness -- skeletal anomalies -- unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Oculocerebral hypopigmentation syndrome, type Preus: A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities.
  • Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
  • Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
  • Orofaciodigital syndrome type I:
  • Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
  • Orofaciodigital syndrome, Shashi type: A rare genetic disorder involving oral, facial and digital abnormalities as well as the absence of the pituitary gland.
  • Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
  • Palate symptoms: Symptoms affecting the palate
  • Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Partial deletion of Y: A very rare genetic disorder where a portion of chromosome Y is missing resulting in various abnormalities. Symptoms vary from case to case.
  • Patterson-Stevenson syndrome: A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.
  • Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
  • Phocomelia -- thrombocytopenia -- encephalocele -- urogenital malformation: An early congenital condition that is characterized by multiple congenital anomalies. The severity and range of abnormalities may vary amongst patients.
  • Pilo dento ungular dysplasia -- microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
  • Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
  • Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
  • Pseudoxanthoma elasticum: A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.
  • Pseudoxanthoma elasticum, dominant form: A very rare dominantly inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
  • Pseudoxanthoma elasticum, forme fruste: An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
  • Pseudoxanthoma elasticum, recessive form: A very rare recessively inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
  • Ptosis -- strabismus -- ectopic pupils: A very rare syndrome characterized mainly by droopy eyelids, crossed eyes and ectopic pupil.
  • Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
  • Radio digito -- facial dysplasia: A very rare syndrome characterized mainly by abnormalities of the arm bones and facial anomalies.
  • Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
  • Radioulnar synostosis mental retardation hypotonia: A very rare syndrome involving mental retardation, reduced muscle tone and fusion of the forearm bones.
  • Rapadilino syndrome: A rare genetic condition characterized primarily by a cleft palate which has a high arch and missing or underdeveloped kneecaps as well as other anomalies.
  • Renal dysplasia -- limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
  • Respiratory symptoms: Symptoms affecting the breathing systems.
  • Retention of tears -- ectrodactyly -- ectodermal dysplasia -- strange hair, skin and teeth: A rare syndrome characterized by a hand deformity and hair, skin and teeth abnormalities.
  • Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
  • Richieri-Costa Pereira syndrome: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Richieri-Costa-Silveira-Pereira syndrome: A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
  • Rommen-Mueller-Sybert syndrome: A very rare syndrome characterized mainly by heart defects, short stature and craniofacial anomalies.
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
  • Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
  • Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
  • Short stature -- valvular heart disease: A very rare syndrome characterized mainly by short stature and heart valve disease.
  • Short stature valvular heart disease characteristic facies: A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions.
  • Simpson-Golabi-Behmel syndrome, type 2: A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth.
  • Skeletal dysplasia -- mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Sketetal dysplasia coarse facies mental retardation: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
  • Skull symptoms: Symptoms affecting the skull surrounding the brain.
  • Spastic diplegia, infantile type: A rare genetic disorder characterized by the early onset of lower leg spasticity and weakness and mental retardation.
  • Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.
  • Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
  • Spondylohypoplasia arthrogryposis popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
  • Spondylohypoplasia, arthrogryposis and popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
  • Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features: A rare syndrome characterized by the association of eye and brain abnormalities, mental retardation and a distinctive facial appearance.
  • Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
  • Teebi-Shaltout syndrome: A very rare syndrome characterized by various facial and head abnormalities.
  • Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
  • Thiele syndrome: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head.
  • Thin ribs -- tubular bones -- dysmorphism: A very rare syndrome characterized mainly by thin ribs, narrow-shafted long bones and a large head.
  • Thiolase deficiency: A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.
  • Trigonocephaly -- bifid nose -- acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.
  • Trigonocephaly -- ptosis -- coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
  • Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
  • Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • Turner-mongolism polysyndrome: A rare syndrome characterized by webbed neck, elbow abnormalities and infantilism.
  • Unusual facies, osteosarcoma and malformation syndrome: A rare syndrome characterized mainly by an unusual facial appearance, osteosarcoma, hearing problems and other variable abnormalities.
  • Van der Woude syndrome: A syndrome which is characterised by multiple congenital abnormalities
  • Van der Woude syndrome 2: A syndrome which is characterised by multiple congenital abnormalities
  • Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
  • Von voss Cherstvoy syndrome: An early congenital condition that is characterised by multiple congenital anomalies.
  • Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
  • Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
  • Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
  • Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
  • Zellweger-like syndrome, without peroxisomal anomalies: A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects.

Conditions listing medical symptoms: High arched palate:

The following list of conditions have 'High arched palate' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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