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Glossary for Fine-Lubinsky syndrome

  • 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Acrocephalosyndactyly type 3 (ACPS 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 brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • 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.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Cataract: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
  • Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18, Monosomy 18p: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 18p minus syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
  • Chromosome 20q duplication syndrome: A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 9, Tetrasomy 9p: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
  • Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption.
  • Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
  • Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
  • De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
  • Deafness: Inability to hear sounds.
  • Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Flat face: A flat face is a face that has a flat shape to its contour.
  • Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
  • GOMBO syndrome: A rare syndrome characterized by retarded growth, eye abnormalities, short fingers and mental deficiency (oligophrenia).
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • Hanhart syndrome type I: A rare genetic disorder characterized by retarded growth, impaired libido, distinctive facial features, delayed puberty and excess fatty deposits in breast and abdominal area.
  • Hanhart syndrome type II: A rare genetic disorder characterized by retarded growth, distinctive facial features, delayed puberty, excess fatty deposits in breast and abdominal area, small jaw , small tongue, hand and foot deformities and missing teeth.
  • Head Conditions: Conditions that affect the head
  • Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
  • Intellectual or developmental disabilities: Disorders of physical or intellectual development.
  • KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
  • Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Mental retardation conditions: Medical conditions related to or causing mental retardation.
  • Pfeiffer syndrome Type 1: 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, hand and feet abnormalities.
  • Potocki-Shaffer syndrome: A very rare syndrome caused by the absence of a portion of chromosome 11p and characterized mainly by bone growths, enlarged fontanel and parietal foramina.
  • Pyknodysostosis: A condition which is characterized by a hereditary syndrome of short stature, osteoporosis, and skeletal abnormalities
  • 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.
  • Short head: Short head is a condition in which the head is unusually short.
  • Smith-Magenis Syndrome: A rare syndrome characterized by various developmental problems as well as various physical defects primarily affecting the head and the face.
  • Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
  • Vertebral body fusion overgrowth: A condition that is characterised by increased keratinization of the skin with a x-linked genetic trait
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Webster Deming syndrome: A craniofrontonasal dysplasia that is x-linked in inheritance
  • Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
  • Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

 

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