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Diseases » Jarcho-Levin Syndrome » Glossary
 

Glossary for Jarcho-Levin Syndrome

  • Ankylosing spondylarthritis: Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues.
  • Anteverted nostrils: Anteverted nostrils are nostrils that are rotated in a forward postion.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex: A rare disorder characterized by fetal developemental problems involving the urogenital and intestinal tract and resulting in exstrophy of the bowel and bladder.
  • Bone conditions: Conditions that affect the bones
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Bowing of Long Bones, Asymmetrical and Symmetrical: A very rare syndrome characterized by bowed long bones, unusual skull appearance and wide-set eyes.
  • Broad forehead: A broad forehead is a forehead that is wider or larger than average.
  • 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.
  • Chlorpropamide -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpropamide (an antidiabetic drug) 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.
  • Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosomes 1 and 2, monosomy 2q duplication 1p: A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and skeletal and facial defects.
  • Cloacal exstrophy: A rare disorder characterized by fetal developemental problems involving the urogenital and intestinal tract and resulting in exstrophy of the bowel and bladder.
  • Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Del (2) (q22-q24.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q21-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fourteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q25-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
  • Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
  • Ferlini-Ragno-Calzolari syndrome: A rare syndrome reported in only a few families and characterized by skeletal problems, excessive fluid inside the skull and neurological problems.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
  • Hydrocephalus -- Skeletal Anomalies -- Mental Disturbance: A very rare condition reported in only a few families and characterized by a buildup of fluid inside the brain, skeletal anomalies and mental disturbance.
  • Insulin -- Teratogenic Agent: There is evidence to indicate that exposure to Insulin 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.
  • Ischio-spinal dysostosis: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
  • Ischio-spinal dysostosis -- rib gaps -- nephroblastomatosis: A rare syndrome characterized by underdeveloped ischial bones (lower back portion of hip bone) and vertebral anomalies and kidney disease.
  • Ischio-spinal dysostosis with cystic kidney disease: A rare syndrome characterized by underdeveloped ischial bones (lower back portion of hip bone), vertebral anomalies and kidney disease.
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Lovastatin -- Teratogenic Agent: There is evidence to indicate that exposure to Lovastatin 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.
  • Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
  • Moore Smith Weaver syndrome: A very rare syndrome characterized by bowed long bones, unusual skull appearance and wide-set eyes.
  • Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
  • Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
  • Multiple vertebral anomalies unusual facies: A rare condition characterized by the associated of a number of vertebral anomalies and an unusual facial appearance.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
  • Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
  • Orofaciodigital syndrome, Gabrielli type: A rare genetic disorder involving oral, facial and digital abnormalities as well as skeletal anomalies and psychomotor delay.
  • Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
  • Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Prominent back of skull: Prominent back of skull is an unusually large or protruding back of the skull.
  • Quinine -- Teratogenic Agent: There is evidence to indicate that exposure to Quinine 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.
  • Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
  • Reardon-Hall-Slaney syndrome: A very rare syndrome characterized mainly by short limbs, cleft palate and permanently flexed fingers.
  • Rhizomelic dysplasia Patterson Lowry type: A very rare syndrome characterized mainly by short upper arm and thigh bones.
  • Robinow syndrome, autosomal recessive: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
  • Robinow syndrome, recessive form: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals.
  • Scoliosis: Sideways curvature of the spine
  • Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
  • Spondyloepimetaphyseal dysplasia, X-linked: A rare skeletal disorder where the spine and long bones grow and develop abnormally. The trunk and fingers are short.
  • Stoll Levy Francort Syndrome: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • VACTERL association: A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine.
  • VATER association: An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia
  • Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency: A rare syndrome characterized by unusual ears, retarded growth, pulmonary hypertension.
  • 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.
  • Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).

 

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