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Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

Disease definition

Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.

ORPHA:2001

  • Synonym(s):
    • McPherson-Clemens syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 601165
  • UMLS: C2931750
  • MeSH: -
  • GARD: 3430
  • MedDRA: -

Additional information

Further information on this disease

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