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Cleft lip/palate - intestinal malrotation - cardiopathy

Orpha number ORPHA2001
Synonym(s) McPherson-Clemens syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
Infancy
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C2931750
MeSH -
MedDRA -

Summary

The association of bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and severe congenital heart defect, was described only in four chromosomally normal patients (3 males, 1 female) belonging to two different sibships. In the first sibship, the sister also had malrotation of the intestine and bifid thumbs, and the brother a bilobed tongue. In the second sibship, the two affected boys had a brother with a cardiac defect and hypertelorism, but no facial cleft. The sister and brother were stillborn, while one of the three brothers diad at 4 months. Although the parents were unrelated in both cases, this association of malformations is likely to represent a disorder with autosomal recessive inheritance.


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