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Diseases » Craniosynostosis » Glossary
 

Glossary for Craniosynostosis

  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 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.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
  • Blindness: The inability to see out of the eyes
  • Bone conditions: Conditions that affect the bones
  • Brain conditions: Medical conditions that affect the brain
  • 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 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 6p partial duplication: A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material.
  • Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 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 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 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 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • 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 9, trisomy: 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. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Craniosynostosis -- brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
  • Craniosynostosis cleft lip palate arthrogryposis: A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis.
  • Craniosynostosis contractures cleft: A rare condition characterized by the association of premature fusion of skull bones (craniosynostosis), contractures and oral clefting.
  • Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Developmental problems: Physical or mental development difficulty.
  • Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head Conditions: Conditions that affect the head
  • Head symptoms: Symptoms affecting the head or brain
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
  • Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
  • Jackson-Weiss Syndrome: A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Muenke Syndrome: A rare inherited condition characterized by the premature fusion of particular skull bones.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Pfeiffer syndrome Type 3: 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 craniofacial abnormalities, cardiovascular malformations and early death is common.
  • Primary craniosynostosis: A rare condition where the skull bones close prematurely resulting in an abnormal head shape. The degree of shape abnormality is determined by which bones close prematurely.
  • Robinow Sorauf syndrome: A rare disorder characterized by facial and dental abnormalities as well as a partial or complete duplication of the end bone of the big toe.
  • 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.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • 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.
  • Winter Shortland Temple syndrome: A congenital syndrome characterised by multiple birth defects and dysmorphic features

 

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