Friday

FG Syndrome

Advice:
  • A child can have the syndrome without having all of the characteristic features.
  • Rare for any one individual to have every known trait of FG syndrome.
  • Kim Peek (inspiration for film "Rain Man") is believed to have the condition.
Genetics:
  • X-linked genetic syndrome.
  • Quite common - 1 in 500 males (minimum estimate).
  • FGS is an incompletely recessive X-linked disorder.
  • FGS1 - Mutations in the MED12 gene (Xq13) cause FGS1 (Opitz-Kaveggia syndrome)
  • FGS2 - Mutations in the FLNA (Xq28.2; FGS2) (leading to typical periventricular nodular heterotopia on MRI).
  • FGS3 - Xp22.22 locus for gene (candidate gene for FGS3 is MID1).
  • FGS4 - Mutations in CASK (Xp11.4; FGS4),
  • FGS5 - Xq22.3 locus for gene
  • FGS6 - Mutations in UPF3B (Xq25-26; FGS6)
  • FGS7 - Mutations in BRWD3 (Xq21.1; FGS7) genes.
History:
  • Described in 1974 by Drs. John M. Opitz and Elizabeth G. Kaveggia.
Clinical Features:

Gastrointestinal:
  • Imperforate anus.
  • Chronic constipation
Head & Neck:
  • Hearing loss
  • Vision problems
  • Wide set eyes
  • Broad nasal bridge
  • Low set simple ears
  • Thin upper lip
  • Fuller lower lip
  • Cleft palate
  • Laryngeal cleft
  • Open mouthed appearance
  • Protruding tongue (macroglossia)
Cardiac problems:
  • Heart defects
Neurological Problems:
  • Agenesis of the corpus collosum
  • Tethered cord
  • Chiari I malformations
  • Poor muscle tone(hypotonia)
  • Seizures
Cognitive Problems:
  • Developmental delay
  • Speech delay
  • Mental retardation
  • Intellectual disability
  • Outgoing
  • Talkative
  • Crave lots of attention
  • Obsessive/compulsive tendencies ("OCD")
  • Sensory integration dysfunction ("SID")
Musculoskeltal Problems:
  • Large head
  • Broad thumbs
  • Broad big toes
  • Short stature
  • Joint contractures
Skin Problems:
  • Fingerprint patterns (characteristic)
  • Webbed fingers and toes
  • Sacral pit
  • Cowlicks in their hair
  • Widow's peak hairline
Skeletal defects:
  • Craniosynostosis
  • Scoliosis
Other:
  • Genital abnormalities
  • Hypospadias
  • Hydrocele
  • Respiratory problems
  • Sleep apnoea
  • Kidney problems
Diagnosis:
Typically made by a geneticist who is familiar with the syndrome.

Differential diagnoses:
Atkin-Flaitz syndrome
C syndrome
Donnai-Barrow syndrome
Dubowitz syndrome
Fragile X syndrome
GBBB syndrome
Keipert syndrome
Nasodigitoacoustic syndrome
Pelizaeus-Merzbacher disease
Renpenning syndrome
Say-Meyer syndrome
Sotos syndrome


Posted by ALCHEssMIST.
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1 comment:

Winfred said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/FG_Syndrome/744. I hope it helps. Thanks, AccessDNA

 
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