THE MOHR AND MAJEWSKI SYNDROMES: OVERLAPPING PHENOTYPES

Abstract

The Mohr syndrome (oral-facial-digital syndrome, type II) and the Majewski syndrome (a form of short rib-polydactyly) are currently described as separate dysmorphic syndromes with autosonal recessive inheritance. The Mohr syndrome is characterized by median cleft of the upper lip, cleft tongue, oral hamartomas, bimanual polydactyly, hallucal reduplication and a normal lifespan. The Majewski syndrome is characterized by cleft lip, hypoplastic epiglottis, short ribs, genitourinary anomalies, mesomelic brachymelia, pre- and postaxial polydactyly and death in infancy.We studied two unrelated female infants with features common to both syndromes. One had median pseudocleft of the upper lip, lingual nodules, short ribs, urogenital sinus, hydrometrocolpos, short tibias and hallucal reduplication. She failed to thrive and died at 4 months of age. The second infant had median pseudocleft of the upper lip, lingual nodules, micrognathia, epiglottic hypoplasia, pre- and postaxial polydactyly and hallucal reduplication. Despite tracheostomy, she died at 11 months of age. On post-mortem exam a single atrium and ventricular septal defect were found. Both infants had orofacial and digital features typical of the Mohr syndrome. However, one had the skeletal and genitourinary abnormalities and the other, the hypoplastic epiglottis of the Majewski syndrome. The presence in our patients of anomalies typical of the Mohr and Majewski syndromes may indicate that these syndromes represent two extremes of the same disorder.