It is suggested that the diagnostic criteria for<unk>  syndrome should include cleft lip and/or palate, typical associated<unk>  features, and at least two of the following: urogenital anomalies, caudal appendage, and growth or developmental delay. Due to the relatively high rate of hearing impairment found with the disorder, it too may be considered in the diagnosis. Another congenital disorder, Wolf-Hirschhorn (Pitt-Rogers-Danks) syndrome, shares<unk>  features in its diagnostic criteria. Because of this lacking differentiation, karyotyping (microscopic analysis of the chromosomes of an individual) can be employed to distinguish the two. Whereas deletions in the short arm of chromosome 4 would be revealed with Wolf-Hirschhorn, a karyotype without this aberration present would favor a<unk>  syndrome diagnosis. Also, the karyotype of an individual with<unk>  syndrome alone will be normal. Classification<unk>  syndrome has been shown to have physical, or phenotypical similarities with several other genetic disorders. A report by Reardon et al. (2001) of a nine-year-old boy exhibiting<unk> , caudal and urogenital anomalies consistent with<unk>  syndrome, who also had skeletal malformites indicative of Juberg-Hayward syndrome, suggests that the two disorders may be allelic (caused by different mutations of the same gene). Along with several other disorders that have similar, or overlapping features and autosomal recessive inheritance,<unk>  syndrome has been considered to belong under the designation "3MC syndrome". Titomanlio et al. (2005) described a three-year-old female known to have Michels syndrome. In their review of the physical similarities between Michels,<unk>  and Mingarelli-Carnevale syndromes—particularly the<unk>  appearance including instances of cleft lip and palate, and ptosis, and a similarity of congenital abdominal and urogenital anomalies—they believed the syndromes may represent a spectrum of genetic disorders rather than three individual disorders. They initially suggested this spectrum could be named 3MC (Michels-Malpuech-Mingarelli-Carnevale) syndrome. This conclusion and the name 3MC syndrome was supported by Leal et al. (2008), who reported a brother and sister with an array of symptoms that overlapped the various syndromes. Further assertion of 3MC syndrome was by Rooryck et al. (2011) in an elaboration of its cause.
Malpuech facial clefting syndrome
Nager acrofacial dysostosis
Branchio-oculo-facial syndrome
Otofacial syndrome
Liber pantegni
Cleft Lip and Palate Association
Ablepharon macrostomia syndrome
Urofacial syndrome