Coffin-Siris syndrome

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A familial syndrome of mental retardation associated with coarse features, scoliosis, pigeon breast, hypoplasia or absence of the fifth fingers and toenails and short distal phalanges.

Description

A familial syndrome of mental retardation associated with coarse features, scoliosis, pigeon breast, hypoplasia or absence of the fifth fingers and toenails, short distal phalanges, feeding difficulty during infancy, hypotonia. Occasionally cardiac, vertebral, or gastrointestinal anomalies. Present from birth. Both sexes affected; female/male 4:1. Males can show the full syndrome; females may have only mental retardation and abnormal fingers.

We are happy to serve our many French visitors with this description in French, received from Dr. Thierry Perez, Tours, France:

Syndrome polymalformatif de transmission probablement récessif autosomique caractérisé par un retard de croissance intra-utérin s'aggravant en période post natale, des anomalies caractéristiques des extrémitées avec une hypo/aplasie des ongles et des troisièmes phalanges prédominant au vèmes doigts et orteils. Le retard mental est constant mais de sévérité variable. On décrit également généralement associés: une hypo/aplasie rotulienne, agénésie du corps calleux, difficultées alimentaire sévères, cardiopathie, déficit en biotinidase, sténose du pylore fréquente, dysmorphie faciale avec des traits grossiers et cheuveux clairsemés, hypotonie, fente palatine, hernie diaphragmatique...

Bibliography

  • G. S. Coffin, E. Siris:
    Mental retardation with absent fifth fingernail and terminal phalanx.
    American Journal of Diseases of Children, Chicago, 1970, 119: 433-439.
  • E-M. McGhee:
    Candidate region for Coffin-Siris syndrome at 7q32-34.
    The American Journal of Medical Genetics, New York, 2000, 93: 241-243.
  • B. J. Fleck:
    Coffin-Siris syndrome: review and presentation of new cases from a questionary study.
    The American Journal of Medical Genetics, New York, 2001, 99: 1-7.

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