Two Filipino Children with Oromandibular Limb Hypogenesis Spectrum

Abstract

Oromandibular Limb Hypogenesis Spectrum (OMLHS) [OMIM 103300] is a rare disease characterized by congenital defects of the face, mandible, tongue and hypoplastic limbs. The exact etiology remains unknown. We present two Filipino children diagnosed with OLMHS. Patient 1 is a 2-year-old female noted to have micrognathia, sygnathia and hypoplasia of distal extremities. Patient 2 is a 6-year-old male with hypoplastic mandible, micrognathia, micromelia of both lower extremities and syndactyly of hands. The early recognition of this disease is important so that early surgical correction of deformities particularly the hypoplastic mandible be addressed to avoid complications such as respiratory distress and feeding difficulties.