- FG syndrome
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FG syndrome Classification and external resources OMIM 305450 DiseasesDB 32162 GeneReviews MED12-related disorders FG syndrome (FGS; also known as Opitz-Kaveggia syndrome) is a rare genetic syndrome linked to the X chromosome and causing physical anomalies and developmental delays. First reported by Opitz and Kaveggia in 1974,[1] its major clinical features include retardation, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).[2]
Contents
Characteristics
FG syndrome's major clinical features include mental retardation, usually severe; hyperactive behavior, often with an outgoing personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip, and partial or complete loss of the corpus callosum. About a third of reported cases of individuals with FG syndrome die in infancy, usually due to respiratory infection; premature death is rare after infancy.[2]
Genetics
Types include:
Type OMIM Gene Locus FGS1 305450 MED12 Xq13 FGS2 300321 FLNA Xq28 FGS3 300406 ? Xp22.3 FGS4 300422 CASK Xp11.4-p11.3 FGS5 300581 ? Xq22.3 History
Kim Peek (1951–2009) probably had FG syndrome.
The name of the syndrome comes from the initials of the surnames of two sisters, who had five sons with the syndrome. The first study of the syndrome, published in 1974,[1] established that it was linked to inheritance of the X chromosome.[3]
A 2008 study concluded that Kim Peek, who was the basis for the Dustin Hoffman character in the movie Rain Man, probably had FG syndrome.[3]
See also
References
- ^ a b Opitz JM, Kaveggia EG. Studies of malformation syndromes of man XXXIII: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd. 1974;117(1):1–18. doi:10.1007/BF00439020. PMID 4365204.
- ^ a b Thompson E, Baraitser M. FG syndrome. J Med Genet. 1987;24(3):139–43. doi:10.1136/jmg.24.3.139. PMID 3572995.
- ^ a b Opitz JM, Smith JF, Santoro L. The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. Adv Pediatr. 2008;55:123–70. doi:10.1016/j.yapd.2008.07.014. PMID 19048730.
Sex linkage: X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiencyHematologic Endocrine Metabolic amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome
dyslipidemia: Adrenoleukodystrophy
carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb
lipid storage disorder: Fabry's disease
mucopolysaccharidosis: Hunter syndrome
purine-pyrimidine metabolism: Lesch–Nyhan syndrome
mineral: Menkes disease/Occipital horn syndromeNervous system X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome
eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia
other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2Skin and related tissue Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·
X-linked ichthyosis · X-linked endothelial corneal dystrophyNeuromuscular Urologic Bone/tooth No primary system Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndromeX-linked dominant X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1Categories:- X-linked recessive disorders
- Syndromes
- Genetic disorder stubs
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