Simpson's syndrome (Joe Leigh Simpson)
A familial syndrome of pre- and postnatal gigantism characterized by coarse, bulldog-like faces and multiple abnormalities. The symptoms include above normal birth weight and length, postnatal overgrowth, large head with coarse facies, short nose with a flat and broad bridge and upturned tip, enlarged tongue with short frenulum, widely open mouth, thick lips, grooved lower lip, cleft or highly arched palate, and Malocclusion. Orofacial features also include downslanting palpebral fissures, exophthalmos, and hypertelorism, large ears, husky voice, pitted ears with tags or creases. The neck is broad and short.
Other features include stocky constitution, supernumerary nipples, rib abnormalities, pectus excavatum, bundle-branch or AV-block, hepatosplenomegaly, umbilical or inguinal hernia, cryptorchidism, nail dysplasia, abnormal dermatoglyphics, and sometimes mental retardation. The spine shows vertebral abnormalities and scoliosis. The patients suffer from feeding and breathing difficulty. Inheritance is X-chromosomal recessive variable expression.
Simpson et al described the syndrome in 2 males, sons of sisters. Behmel et al observed 11 male newborns with a syndrome similar and perhaps identical to the one described by Simpson. These had elevated birth weight and those who reached adulthood attained heights of about 2 meters.
We thank Emily Spence for correcting an error.
- J. L. Simpson, S. Landey, M. New, J. German:
A previously unrecognized X-linked syndrome of dysmorphia.
Birth Defects Original Article Series, New York, 1975, XI(2): 18-24.
- A. Behmel, E. Plöchl, W. Rosenkranz:
A new X-linked dysplasia gigantism syndrome: Identical with the Simpson dysplasia syndrome?
Human Genetics, Berlin, 1984, 67: 409-413. A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.
American Journal of Medical Genetics, New York, 1988, 30: 275-285.
- M. Golabi, L. Rosen:
A new X-linked mental retardation-overgrowth syndrome.
American Journal of Medical Genetics, New York, 1984, 17: 345-358.