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Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

Disease definition

A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.

ORPHA:2001

Classification level: Disorder
  • 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: -
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