- 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.
- 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.
- Described in 1974 by Drs. John M. Opitz and Elizabeth G. Kaveggia.
- Imperforate anus.
- Chronic constipation
- 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)
- Heart defects
- Agenesis of the corpus collosum
- Tethered cord
- Chiari I malformations
- Poor muscle tone(hypotonia)
- Developmental delay
- Speech delay
- Mental retardation
- Intellectual disability
- Crave lots of attention
- Obsessive/compulsive tendencies ("OCD")
- Sensory integration dysfunction ("SID")
- Large head
- Broad thumbs
- Broad big toes
- Short stature
- Joint contractures
- Fingerprint patterns (characteristic)
- Webbed fingers and toes
- Sacral pit
- Cowlicks in their hair
- Widow's peak hairline
- Genital abnormalities
- Respiratory problems
- Sleep apnoea
- Kidney problems
Typically made by a geneticist who is familiar with the syndrome.
Fragile X syndrome
Posted by ALCHEssMIST.
Home | Index | AZ | Numbers | Years | Animals | Architecture | Art | Business | Fashion | Films | Food & Drink | Games | Health | History | Literature | Media | Music | People |Politics | Science | Sport | Technology | World |