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Glossary for Jaffer-Beighton syndrome

  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Bone conditions: Conditions that affect the bones
  • Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • 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 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
  • Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Haim-Munk syndrome: A rare inherited disorder involving red, thickened patches of skin on the palms and soles, skin infections and nail and teeth abnormalities.
  • Hand conditions: Any condition that affects the hand
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
  • Joint symptoms: Symptoms affecting the joints.
  • Loeys-Dietz syndrome: A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries.
  • Long thin fingers: Long thin fingers are fingers that are unusually elongated and slim.
  • Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
  • 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.
  • Marfanoid hypermobility: An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, slender build, ear anomalies and hand contractures.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Pectus carinatum: A rare disorder characterized by bone abnormalities in the chest region.
  • Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
  • Rheumatic conditions: Any condition that affects ones joints
  • Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
  • Shprintzen-Goldberg syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Spinal conditions: Any condition that affects the spine
  • Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
  • Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
  • Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
  • Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities

 

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