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What Facial Characteristics are Common?

Males

Young girl hugging young boy with FXSThe primary physical features that people associate with fragile X syndrome in males are long faces and prominent ears. These features are more common in males over the age of 10 than among those under 10.

The ears are often wider and longer than usual and may project away from the head. However, long ears are also common among mentally retarded males who do not have fragile X syndrome.

When compared to mentally retarded males who do not have fragile X syndrome, those with fragile X have a larger head circumference, head breadth and head length. 

Females

A premutation in the FMR1 gene typically has little or no impact on a female in terms of behavior and educational ability. However several facial characteristics such as prominent ears and prominent jaw appear commonly in females with the premutation.

Females with the full mutation may exhibit some of the physical features associated with fragile X males. These include facial characteristics such as long face, long ears, prominent ears, and high arched palate.

For further reading: (These are research articles written to communicate with other professionals.)

  • Butler, M. G., G. A. Allen, et al. (1991).
    "Anthropometric comparison of mentally retarded males with and without the fragile X syndrome." American Journal of Medical Genetics 38(2-3): 260-8.
  • Butler, M. G., A. Brunschwig, et al. (1992).
    "Standards for selected anthropometric measurements in males with the fragile X syndrome." Pediatrics 89(6 Pt 1): 1059-62.
  • Butler, M. G., R. Pratesi, et al. (1993).
    "Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome." Clinical Genetics 44(3): 129-38.
  • Cronister, A., R. Schreiner, et al. (1991).
    "Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features." American Journal of Medical Genetics 38(2-3): 269-74.
  • de Vries, B. B., J. P. Fryns, et al. (1993).
    "Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype [see comments]." Journal of Medical Genetics 30(9): 761-6.
  • de Vries, B. B., H. Robinson, et al. (1995).
    "General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation." Journal of Medical Genetics 32(10): 764-9.
  • Hull, C. and R. J. Hagerman (1993).
    "A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome." American Journal of Diseases of Children 147(11): 1236-41.
  • Loesch, D. Z. and D. A. Hay (1988).
    "Clinical features and reproductive patterns in fragile X female heterozygotes." Journal of Medical Genetics 25(6): 407-14
  • Loesch, D. Z. and M. L. Sampson (1993).
    "Effect of the fragile X anomaly on body proportions estimated by pedigree analysis." Clinical Genetics 44(2): 82-8.
  • Riddle, J. E., A. Cheema, et al. (1998).
    "Phenotypic involvement in females with the FMR1 gene mutation." American Journal on Mental Retardation 102(6): 590-601.
  • Verma, I. C. and R. Elango (1994).
    "Variable expression of clinical features of Martin Bell syndrome in younger patients." Indian Pediatrics 31(4): 433-8

 

 
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