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Diseases » Microcephaly » Glossary
 

Glossary for Microcephaly

  • 49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
  • Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Bone conditions: Conditions that affect the bones
  • Brain conditions: Medical conditions that affect the brain
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Chorioretinopathy -- microcephaly, autosomal recessive: A rare, recessively inherited disorder characterized by a small head and a degenerative eye condition.
  • Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
  • Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
  • Cognitive impairment: General loss of mental or cognitive ability
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
  • Encephaloceles: Improper protrusions of parts of the meninges and brain.
  • Facial feature symptoms: Different facial features as symptoms
  • Fanconi's anemia: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fetal alcohol syndrome: A pattern of mental and physical birth defects caused by excessive alcohol use during pregnancy. The range and severity of the symptoms may vary greatly.
  • Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.
  • GOMBO syndrome: A rare syndrome characterized by retarded growth, eye abnormalities, short fingers and mental deficiency (oligophrenia).
  • Galloway-Mowat Syndrome: A condition which is characterized by microcephaly, hiatal hernia and nephrotic syndrome
  • Head Conditions: Conditions that affect the head
  • Head symptoms: Symptoms affecting the head or brain
  • Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
  • Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Infantile Spasms: Seizure condition in infants.
  • 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.
  • Lenz Microphthalmia Syndrome: A condition which is characterized by an abnormally small eye
  • Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
  • Lowry-Wood syndrome: A rare syndrome characterized by a small head, rapid involuntary eye movements (nystagmus) and abnormal development of the ends of long bones where growth occurs.
  • Malformations in neuronal migration: A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. 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.
  • Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.
  • Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
  • Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
  • Neuronal Migration Disorders: Group of disorders caused by abnormal growth of nerves in the brain and head.
  • Norman-Roberts lissencephaly syndrome: A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted.
  • Oculodigitoesophagoduodenal syndrome: A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
  • Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
  • Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
  • Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
  • Pitt-Rogers-Danks syndrome: A rare genetic condition characterized by reduced fetal growth, mental retardation and distinctive facial features.
  • Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
  • Pyruvate dehydrogenase deficiency: An inherited carbohydrate metabolism disorder where a deficiency of pyruvate dehydrogenase results in metabolic acidosis and mental retardation as well as other neurological symptoms. The condition may be mild or severe. The condition is exacerbated by eating high carbohydrate meals and stress.
  • Quadriplegia: A condition where the patient becomes fully or partially paralysed from the neck down and is unable to move their arms or legs.
  • Rathburn disease: A rare inherited condition involving bone and teeth mineralization abnormalities and reduced phosphatase enzyme activity. The severity of the disorder varies according to the degree of reduction in phosphatase activity.
  • Renpenning syndrome 1: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
  • Retinopathy pigmentary -- intellectual deficit: A rare syndrome characterized by eye disease and mental retardation.
  • Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
  • Rubella congenital syndrome: The transplacental infection of a fetus with rubella
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • Scalp symptoms: Symptoms of the scalp on the head
  • Schizencephaly: A very rare disorder where the brain fails to develop normally and slits or clefts form in the brain. They type and severity of symptoms is determined by the degree of abnormality.
  • Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
  • Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Small head: The occurrence of a head which is smaller than normal
  • Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
  • Spastic paraplegia 23: A rare disorder characterized mainly by progressive stiffness and weakness of the leg muscles, premature graying, characteristic facial appearance and a skin pigmentation anomaly. Pigmentation anomalies usually start from the age of 6 months and leg problems may be noticed around the middle of the first decade.
  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
  • Van Maldergem Wetzburger Verloes syndrome: A syndrome characterised by abnormalities of the cerebrum, face, and articular joints.
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
  • Viljone Kallis Voges syndrome: A syndrome characterised by microcephaly, short stature, brachydactyly, low set ears, prominent nose and mental retardation
  • Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
  • Warburton Anyane Yeboa syndrome: A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies
  • Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
  • Weaver Williams syndrome:
  • Wiedemann-Beckwith syndrome: A rare genetic disorder characterized by an enlarged tongue, omphalocele, excessive birth weight and ear creases.
  • Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
  • Winship Viljoen Leary syndrome: A syndrome that is characterised by microcephaly with mental retardation and cardiomyopathy
  • Wolf-Hirschhorn Syndrome: A syndrome which is caused by a partial deletion of the short arm of chromosome 4.
  • Worster Drought syndrome: A mild form of tetraplegic cerebral palsy
  • Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
  • X chromosome, duplication Xq13 1 q21 1: A condition characterised by the duplication of the long arm of chromosome X.
  • X chromosome, trisomy 26-28: A condition characterised by the duplication of the long arm of chromosome X.
  • X chromosome, trisomy Xp3: A condition characterised by the duplication of the long arm of chromosome X.
  • X chromosome, trisomy Xpter Xq13: A condition characterised by the duplication of the long arm of chromosome X.
  • X chromosome, trisomy Xq: A condition characterised by the duplication of the long arm of chromosome X.
  • X chromosome, trisomy Xq25: A condition characterised by the duplication of the long arm of chromosome X.
  • X-linked mental retardation craniofacial abnormal microcepahly club: An x-linked condition that is characterised by mental retardation and dysmorphic facies
  • Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
  • Zerres Rietschel Majewski syndrome: A condition that affects an individual resulting in several physical deformities and mental conditions

 

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