Malpuech syndrome: three patients and a review

Am J Med Genet A. 2005 May 1;134(4):450-3. doi: 10.1002/ajmg.a.30662.


We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Cleft Lip / pathology*
  • Cleft Palate / pathology*
  • Diagnosis, Differential
  • Fatal Outcome
  • Growth Disorders / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / pathology
  • Karyotyping
  • Male
  • Syndrome
  • Urogenital Abnormalities / pathology