Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?

Abstract

The mouse disorganization (Ds) was described in mutant mice with multiple congenital anomalies arising from the 3 germinative layers. The human homologue of Ds was proposed in a case presenting multiple congenital anomalies associated with the unique feature of a finger-like skin appendage. Since then, several cases have been reported suggesting the occurrence of a disorganization-like (Ds-like) phenotype in humans. Here, we report a case series of 7 patients presenting with the association of orofacial clefts and finger-like skin appendages. These cases, despite the similarities with Ds and amniotic band sequence, may represent a distinct condition within the spectrum of Ds-like, as other cases previously reported in the literature.