Two Filipino Children with Oromandibular Limb Hypogenesis Spectrum

Mary Ann R. Abacan,1,2 Richard dL. Quing,3 Maria Melanie Liberty B. Alcausin,1,2
Bernard U. Tansipek3 and Eva Maria Cutiongco-Dela Paz1,2

1Department of Pediatrics, College of Medicine and
Philippine General Hospital, University of the Philippines Manila
2Institute of Human Genetics, National Institutes of Health,
University of the Philippines Manila
3Section of Plastic and Reconstructive Surgery, Department of Surgery,
College of Medicine and Philippine General Hospital,
University of the Philippines Manila

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.

Key Words: OMLHS, oromandibular limb hypogenesis syndrome, ankyloglossia, Hanhart syndrome