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Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation


Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pyloric stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndactyly of third and fourth fingers, and severe craniosynostosis were seen each in 1 patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. The FG syndrome is an X-linked recessive condition; heterozygotes appear grossly normal.

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Paper No. 1705 from the University of Wisconsin Genetics Laboratory

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Opitz, J.M., Kaveggia, E.G. Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z. Kinder-Heilk. 117, 1–18 (1974).

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Key words

  • Multiple congenital anomaly/mental retardation (MCA/MR) syndrome
  • Growth disturbances
  • Increased headsize
  • Hypotonia
  • Imperforate anus
  • Partial agenesis of corpus callosum
  • Pyloric stenosis
  • Generalized dilatation of urinary tract
  • Hypoplastic left heart defect
  • Syndactyly of toes and/or fingers
  • Craniosynostosis
  • X-linked inheritance